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Entry
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- *165330 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3
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- OMIM
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<div class="container hidden-print">
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*165330</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/165330">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000108379;t=ENST00000225512" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=7473" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=165330" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000108379;t=ENST00000225512" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_030753" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_030753" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=165330" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01318&isoform_id=01318_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/WNT3" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/11693036,13540477,14424477,16303266,56743934,85566796,85567562,90112089,119578109" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P56703" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7473" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000108379;t=ENST00000225512" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT3" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=WNT3" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7473" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/WNT3" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:7473" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7473" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000225512.6&hgg_start=46762506&hgg_end=46818692&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/wnt3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=165330[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=165330[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000108379" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=WNT3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=WNT3" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=WNT3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=WNT3&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA37383" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Animal Models</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
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</div>
|
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:12782" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:98955" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/WNT3#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:98955" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7473/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=7473" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081003-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
|
</div>
|
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</div>
|
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
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</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7473" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
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<div><a href="https://reactome.org/content/query?q=WNT3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
|
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</div>
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</div>
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</div>
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</div>
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<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
|
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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|
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<div>
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|
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
165330
|
|
</span>
|
|
</span>
|
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</div>
|
|
</div>
|
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|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ONCOGENE INT4; INT4
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 4, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WNT3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WNT3</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
|
|
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|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/669?start=-3&limit=10&highlight=669">17q21.31-q21.32</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:46762506-46818692&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:46,762,506-46,818,692</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/669?start=-3&limit=10&highlight=669">
|
|
17q21.31-q21.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Tetra-amelia syndrome 1
|
|
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<p><a href="#9" class="mim-tip-reference" title="Roelink, H., Wang, J., Black, D. M., Solomon, E., Nusse, R. <strong>Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene.</strong> Genomics 17: 790-792, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244403</a>] [<a href="https://doi.org/10.1006/geno.1993.1412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244403">Roelink et al. (1993)</a> used mouse Wnt3 sequences as a probe to isolate a genomic clone of the human homolog, WNT3. Comparison of the deduced mouse and human WNT3 protein sequences showed 4 changes in 333 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using ribonuclease protection analysis, <a href="#2" class="mim-tip-reference" title="Huguet, E. L., McMahon, J. A., McMahon, A. P., Bicknell, R., Harris, A. L. <strong>Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue.</strong> Cancer Res. 54: 2615-2621, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8168088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8168088</a>]" pmid="8168088">Huguet et al. (1994)</a> investigated expression of WNT genes, including WNT3, in human cell lines, as well as in normal, benign, and malignant breast tissue. They detected WNT3 in breast cell lines and in breast tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8168088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Rider, S. H., Gorman, P. A., Shipley, J., Roeling, H., Nusse, R., Xu, W., Sheer, D., Solomon, E. <strong>Localisation of the human int-4 (INT4) gene. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1066 only, 1989."None>Rider et al. (1989)</a> assigned the INT4 gene to 17q21-q22 using a DNA probe in the study of a panel of chromosome-mediated gene transfectants and conventional hybrids, in particular those with well-defined breaks on human chromosome 17. In situ hybridization was performed for more precise localization. The mouse MMTV integration site int4 was mapped to mouse chromosome 11 in a region homologous to the region of human chromosome 17 carrying the INT4 locus.</p><p><a href="#9" class="mim-tip-reference" title="Roelink, H., Wang, J., Black, D. M., Solomon, E., Nusse, R. <strong>Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene.</strong> Genomics 17: 790-792, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244403</a>] [<a href="https://doi.org/10.1006/geno.1993.1412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244403">Roelink et al. (1993)</a> localized the WNT3 gene to chromosome 17q21 by isotopic in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Several studies had implicated Wnt signaling in primary axis formation during vertebrate embryogenesis, yet no Wnt protein had been shown to be essential for this process. In the mouse, primitive streak formation is the first overt morphologic sign of the anterior-posterior axis in mesoderm. <a href="#5" class="mim-tip-reference" title="Liu, P., Wakamiya, M., Shea, M. J., Albrecht, U., Behringer, R. R., Bradley, A. <strong>Requirement for Wnt3 in vertebrate axis formation.</strong> Nature Genet. 22: 361-365, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431240</a>] [<a href="https://doi.org/10.1038/11932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431240">Liu et al. (1999)</a> generated Wnt3 -/- mice by targeted disruption of the mouse Wnt3 gene. Wnt3 -/- mice developed a normal egg cylinder but did not form a primitive streak, mesoderm, or node. The epiblast continued to proliferate in an undifferentiated state that lacked anterior-posterior neural patterning, but anterior visceral endoderm markers were expressed and correctly positioned. <a href="#5" class="mim-tip-reference" title="Liu, P., Wakamiya, M., Shea, M. J., Albrecht, U., Behringer, R. R., Bradley, A. <strong>Requirement for Wnt3 in vertebrate axis formation.</strong> Nature Genet. 22: 361-365, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431240</a>] [<a href="https://doi.org/10.1038/11932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431240">Liu et al. (1999)</a> concluded that regional patterning of the visceral endoderm is independent of primitive streak formation, but the subsequent establishment of anterior-posterior neural pattern in the ectoderm is dependent on derivatives of the primitive streak. Their studies provided genetic proof for the requirement of Wnt3 in primary axis formation in the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Krylova, O., Herreros, J., Cleverley, K. E., Ehler, E., Henriquez, J. P., Hughes, S. M., Salinas, P. C. <strong>WNT-3, expressed by motoneurons, regulates terminal arborization of neurotrophin-3-responsive spinal sensory neurons.</strong> Neuron 35: 1043-1056, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354395</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00860-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354395">Krylova et al. (2002)</a> investigated the role of Wnt proteins in the formation of the sensorimotor connections in the mouse spinal cord. Using in situ hybridization, they detected Wnt3 gene expression in motoneurons of the lateral motor column at a time when sensory axons make contact with them. In neuronal cultures, Wnt3 increased branching and growth cone size while inhibiting axonal extension in axons responsive to neurotrophin-3 (Ntf3; <a href="/entry/162660">162660</a>), but not in axons responsive to nerve growth factor (NGF). In explant cultures, the ventral spinal cord secreted factors with Wnt3-like axonal remodeling activity that was blocked by Sfrp1 (<a href="/entry/604156">604156</a>), a Wnt antagonist. <a href="#3" class="mim-tip-reference" title="Krylova, O., Herreros, J., Cleverley, K. E., Ehler, E., Henriquez, J. P., Hughes, S. M., Salinas, P. C. <strong>WNT-3, expressed by motoneurons, regulates terminal arborization of neurotrophin-3-responsive spinal sensory neurons.</strong> Neuron 35: 1043-1056, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354395</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00860-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354395">Krylova et al. (2002)</a> concluded that WNT3 acts as a retrograde branching and stop signal for muscle afferents during the formation of sensorimotor circuits in the spinal cord. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12354395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Lie, D.-C., Colamarino, S. A., Song, H.-J., Desire, L., Mira, H., Consiglio, A., Lein, E. S., Jessberger, S., Lansford, H., Dearie, A. R., Gage, F. H. <strong>Wnt signalling regulates adult hippocampal neurogenesis.</strong> Nature 437: 1370-1375, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251967</a>] [<a href="https://doi.org/10.1038/nature04108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251967">Lie et al. (2005)</a> demonstrated that adult hippocampal stem/progenitor cells (AHPs) express receptors and signaling components for Wnt proteins, which are key regulators of neural stem behavior in embryonic development. <a href="#4" class="mim-tip-reference" title="Lie, D.-C., Colamarino, S. A., Song, H.-J., Desire, L., Mira, H., Consiglio, A., Lein, E. S., Jessberger, S., Lansford, H., Dearie, A. R., Gage, F. H. <strong>Wnt signalling regulates adult hippocampal neurogenesis.</strong> Nature 437: 1370-1375, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251967</a>] [<a href="https://doi.org/10.1038/nature04108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251967">Lie et al. (2005)</a> also showed that the Wnt/beta-catenin (<a href="/entry/116806">116806</a>) pathway is active and that Wnt3 is expressed in the hippocampal neurogenic niche. Overexpression of Wnt3 was sufficient to increase neurogenesis from AHPs in vitro and in vivo. By contrast, blockade of Wnt signaling reduced neurogenesis from AHPs in vitro and abolished neurogenesis almost completely in vivo. <a href="#4" class="mim-tip-reference" title="Lie, D.-C., Colamarino, S. A., Song, H.-J., Desire, L., Mira, H., Consiglio, A., Lein, E. S., Jessberger, S., Lansford, H., Dearie, A. R., Gage, F. H. <strong>Wnt signalling regulates adult hippocampal neurogenesis.</strong> Nature 437: 1370-1375, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251967</a>] [<a href="https://doi.org/10.1038/nature04108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251967">Lie et al. (2005)</a> concluded that their data showed that Wnt signaling is a principal regulator of adult hippocampal neurogenesis and provided evidence that Wnt proteins have a role in adult hippocampal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Schmitt, A. M., Shi, J., Wolf, A. M., Lu, C.-C., King, L. A., Zou, Y. <strong>Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping.</strong> Nature 439: 31-37, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16280981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16280981</a>] [<a href="https://doi.org/10.1038/nature04334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16280981">Schmitt et al. (2006)</a> found that Wnt3 is expressed in a medial-lateral decreasing gradient in chick optic tectum and mouse superior colliculus. Retinal ganglion cell axons from different dorsal-ventral positions showed graded and biphasic response to Wnt3 in a concentration-dependent manner. Wnt3 repulsion is mediated by Ryk (<a href="/entry/600524">600524</a>), expressed in a ventral-to-dorsal decreasing gradient, whereas attraction of dorsal axons at lower Wnt3 concentrations is mediated by Frizzled(s) (see <a href="/entry/603408">603408</a>). Overexpression of Wnt3 in the lateral tectum repelled the termination zones of dorsal retinal ganglion cell axons in vivo. Expression of a dominant-negative Ryk in dorsal retinal ganglion cell axons caused a medial shift of the termination zones, promoting medially directed interstitial branches and eliminating laterally directed branches. Therefore, <a href="#10" class="mim-tip-reference" title="Schmitt, A. M., Shi, J., Wolf, A. M., Lu, C.-C., King, L. A., Zou, Y. <strong>Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping.</strong> Nature 439: 31-37, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16280981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16280981</a>] [<a href="https://doi.org/10.1038/nature04334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16280981">Schmitt et al. (2006)</a> concluded that a classic morphogen, Wnt3, acting as an axon guidance molecule, plays a role in retinotectal mapping along the medial-lateral axis, counterbalancing the medial-directed EphrinB1-EphB (see <a href="/entry/300035">300035</a>) activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16280981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Farin, H. F., Jordens, I., Mosa, M. H., Basak, O., Korving, J., Tauriello, D. V. F., de Punder, K., Angers, S., Peters, P. J., Maurice, M. M., Clevers, H. <strong>Visualization of a short-range Wnt gradient in the intestinal stem-cell niche.</strong> Nature 530: 340-343, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26863187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26863187</a>] [<a href="https://doi.org/10.1038/nature16937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26863187">Farin et al. (2016)</a> generated an epitope-tagged functional Wnt3 knockin allele. Wnt3 covers basolateral membranes of neighboring stem cells. In intestinal organoids Wnt3 transfer involves direct contact between Paneth cells and stem cells. Plasma membrane localization requires surface expression of Frizzled receptors, which in turn is regulated by the transmembrane E3 ligases RNF43 (<a href="/entry/612482">612482</a>) and ZNRF3 (<a href="/entry/612062">612062</a>) and their antagonists LGR4 (<a href="/entry/606666">606666</a>), LGR5 (<a href="/entry/606667">606667</a>), and R-spondin (<a href="/entry/609595">609595</a>). By manipulating Wnt3 secretion and by arresting stem cell proliferation, <a href="#1" class="mim-tip-reference" title="Farin, H. F., Jordens, I., Mosa, M. H., Basak, O., Korving, J., Tauriello, D. V. F., de Punder, K., Angers, S., Peters, P. J., Maurice, M. M., Clevers, H. <strong>Visualization of a short-range Wnt gradient in the intestinal stem-cell niche.</strong> Nature 530: 340-343, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26863187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26863187</a>] [<a href="https://doi.org/10.1038/nature16937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26863187">Farin et al. (2016)</a> demonstrated that Wnt3 travels away from its source in a cell-bound manner through cell division, and not through diffusion. The authors concluded that stem cell membranes constitute a reservoir for Wnt proteins, while frizzled receptor turnover and plasma membrane dilution through cell division shape the epithelial Wnt3 gradient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26863187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 affected fetuses of a consanguineous Turkish family with autosomal recessive tetraamelia syndrome (TETAMS1; <a href="/entry/273395">273395</a>), <a href="#6" class="mim-tip-reference" title="Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J. L., Muller, U. <strong>Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.</strong> Am. J. Hum. Genet. 74: 558-563, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14872406[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14872406">Niemann et al. (2004)</a> identified a homozygous nonsense mutation in the WNT3 gene (<a href="#0001">165330.0001</a>). Based on the phenotypic findings in the affected patients, <a href="#6" class="mim-tip-reference" title="Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J. L., Muller, U. <strong>Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.</strong> Am. J. Hum. Genet. 74: 558-563, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14872406[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14872406">Niemann et al. (2004)</a> concluded that WNT3 is required at the early stages of limb formation, as well as for craniofacial and urogenital development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14872406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For the group of related genes of which the first to be discovered was INT1 (<a href="/entry/164820">164820</a>), <a href="#7" class="mim-tip-reference" title="Nusse, R., Brown, A., Papkoff, J., Scambler, P., Shackleford, G., McMahon, A., Moon, R., Varmus, H. <strong>A new nomenclature for int-1 and related genes: the Wnt gene family.</strong> Cell 64: 231-232, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1846319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1846319</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90633-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1846319">Nusse et al. (1991)</a> suggested the designation Wnt (pronounced 'wint'), a mnemonic for the 'wingless' homolog. The product INT1 (renamed WNT1) encodes a novel secretory glycoprotein similar to the product of the Drosophila melanogaster 'wingless' gene. The INT4 locus was renamed WNT3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1846319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>1 Selected Example</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=165330[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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WNT3, GLN83TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894653;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014823</a>
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<p>In 4 affected fetuses of a consanguineous Turkish family with autosomal recessive tetraamelia syndrome (TETAMS1; <a href="/entry/273395">273395</a>), <a href="#6" class="mim-tip-reference" title="Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J. L., Muller, U. <strong>Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.</strong> Am. J. Hum. Genet. 74: 558-563, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14872406[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/382196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14872406">Niemann et al. (2004)</a> identified a homozygous c.366C-T transition in the WNT3 gene, resulting in a gln83-to-ter (Q83X) mutation. The mutation was predicted to result in a truncated protein of only 82 amino acids. Hence, loss of function of both copies of WNT3 is the most likely pathogenic mechanism in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14872406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Farin2016" class="mim-anchor"></a>
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Farin, H. F., Jordens, I., Mosa, M. H., Basak, O., Korving, J., Tauriello, D. V. F., de Punder, K., Angers, S., Peters, P. J., Maurice, M. M., Clevers, H.
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<strong>Visualization of a short-range Wnt gradient in the intestinal stem-cell niche.</strong>
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Nature 530: 340-343, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26863187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26863187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26863187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature16937" target="_blank">Full Text</a>]
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<a id="Huguet1994" class="mim-anchor"></a>
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Huguet, E. L., McMahon, J. A., McMahon, A. P., Bicknell, R., Harris, A. L.
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<strong>Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue.</strong>
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Cancer Res. 54: 2615-2621, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8168088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8168088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8168088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Krylova, O., Herreros, J., Cleverley, K. E., Ehler, E., Henriquez, J. P., Hughes, S. M., Salinas, P. C.
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<strong>WNT-3, expressed by motoneurons, regulates terminal arborization of neurotrophin-3-responsive spinal sensory neurons.</strong>
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Neuron 35: 1043-1056, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12354395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0896-6273(02)00860-7" target="_blank">Full Text</a>]
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<a id="Lie2005" class="mim-anchor"></a>
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Lie, D.-C., Colamarino, S. A., Song, H.-J., Desire, L., Mira, H., Consiglio, A., Lein, E. S., Jessberger, S., Lansford, H., Dearie, A. R., Gage, F. H.
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<strong>Wnt signalling regulates adult hippocampal neurogenesis.</strong>
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Nature 437: 1370-1375, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature04108" target="_blank">Full Text</a>]
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Liu, P., Wakamiya, M., Shea, M. J., Albrecht, U., Behringer, R. R., Bradley, A.
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<strong>Requirement for Wnt3 in vertebrate axis formation.</strong>
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Nature Genet. 22: 361-365, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/11932" target="_blank">Full Text</a>]
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Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J. L., Muller, U.
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<strong>Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.</strong>
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Am. J. Hum. Genet. 74: 558-563, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14872406[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14872406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/382196" target="_blank">Full Text</a>]
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<a id="Nusse1991" class="mim-anchor"></a>
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Nusse, R., Brown, A., Papkoff, J., Scambler, P., Shackleford, G., McMahon, A., Moon, R., Varmus, H.
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<strong>A new nomenclature for int-1 and related genes: the Wnt gene family.</strong>
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Cell 64: 231-232, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1846319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1846319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1846319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90633-a" target="_blank">Full Text</a>]
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Rider, S. H., Gorman, P. A., Shipley, J., Roeling, H., Nusse, R., Xu, W., Sheer, D., Solomon, E.
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<strong>Localisation of the human int-4 (INT4) gene. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1066 only, 1989.
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Roelink, H., Wang, J., Black, D. M., Solomon, E., Nusse, R.
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<strong>Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene.</strong>
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Genomics 17: 790-792, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1412" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Schmitt2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmitt, A. M., Shi, J., Wolf, A. M., Lu, C.-C., King, L. A., Zou, Y.
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<strong>Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping.</strong>
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Nature 439: 31-37, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16280981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16280981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16280981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature04334" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 08/01/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 5/1/2006<br>Ada Hamosh - updated : 11/8/2005<br>Cassandra L. Kniffin - updated : 3/23/2004<br>Dawn Watkins-Chow - updated : 7/18/2003<br>Dawn Watkins-Chow - updated : 2/1/2002<br>Ada Hamosh - updated : 8/2/1999
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/1/1989
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 08/15/2018
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/08/2018<br>carol : 06/22/2018<br>alopez : 08/01/2016<br>carol : 02/17/2015<br>carol : 6/20/2012<br>carol : 8/5/2009<br>alopez : 5/3/2006<br>terry : 5/1/2006<br>alopez : 11/8/2005<br>terry : 11/8/2005<br>tkritzer : 3/24/2004<br>ckniffin : 3/23/2004<br>tkritzer : 8/21/2003<br>tkritzer : 8/20/2003<br>terry : 7/18/2003<br>terry : 2/1/2002<br>alopez : 8/2/1999<br>terry : 8/2/1999<br>psherman : 11/23/1998<br>psherman : 11/21/1998<br>carol : 7/28/1998<br>dkim : 7/17/1998<br>mark : 5/24/1997<br>carol : 9/15/1993<br>supermim : 3/16/1992<br>carol : 7/10/1991<br>supermim : 3/20/1990<br>carol : 12/12/1989<br>ddp : 10/27/1989
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 165330
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3
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</h3>
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ONCOGENE INT4; INT4
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</span>
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</h4>
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<div>
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<br />
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 4, INCLUDED
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</span>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WNT3</em></strong>
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</span>
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</p>
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</div>
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<strong>
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<em>
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Cytogenetic location: 17q21.31-q21.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:46,762,506-46,818,692 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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17q21.31-q21.32
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Tetra-amelia syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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273395
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Roelink et al. (1993) used mouse Wnt3 sequences as a probe to isolate a genomic clone of the human homolog, WNT3. Comparison of the deduced mouse and human WNT3 protein sequences showed 4 changes in 333 amino acids. </p><p>Using ribonuclease protection analysis, Huguet et al. (1994) investigated expression of WNT genes, including WNT3, in human cell lines, as well as in normal, benign, and malignant breast tissue. They detected WNT3 in breast cell lines and in breast tissue. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rider et al. (1989) assigned the INT4 gene to 17q21-q22 using a DNA probe in the study of a panel of chromosome-mediated gene transfectants and conventional hybrids, in particular those with well-defined breaks on human chromosome 17. In situ hybridization was performed for more precise localization. The mouse MMTV integration site int4 was mapped to mouse chromosome 11 in a region homologous to the region of human chromosome 17 carrying the INT4 locus.</p><p>Roelink et al. (1993) localized the WNT3 gene to chromosome 17q21 by isotopic in situ hybridization. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Several studies had implicated Wnt signaling in primary axis formation during vertebrate embryogenesis, yet no Wnt protein had been shown to be essential for this process. In the mouse, primitive streak formation is the first overt morphologic sign of the anterior-posterior axis in mesoderm. Liu et al. (1999) generated Wnt3 -/- mice by targeted disruption of the mouse Wnt3 gene. Wnt3 -/- mice developed a normal egg cylinder but did not form a primitive streak, mesoderm, or node. The epiblast continued to proliferate in an undifferentiated state that lacked anterior-posterior neural patterning, but anterior visceral endoderm markers were expressed and correctly positioned. Liu et al. (1999) concluded that regional patterning of the visceral endoderm is independent of primitive streak formation, but the subsequent establishment of anterior-posterior neural pattern in the ectoderm is dependent on derivatives of the primitive streak. Their studies provided genetic proof for the requirement of Wnt3 in primary axis formation in the mouse. </p><p>Krylova et al. (2002) investigated the role of Wnt proteins in the formation of the sensorimotor connections in the mouse spinal cord. Using in situ hybridization, they detected Wnt3 gene expression in motoneurons of the lateral motor column at a time when sensory axons make contact with them. In neuronal cultures, Wnt3 increased branching and growth cone size while inhibiting axonal extension in axons responsive to neurotrophin-3 (Ntf3; 162660), but not in axons responsive to nerve growth factor (NGF). In explant cultures, the ventral spinal cord secreted factors with Wnt3-like axonal remodeling activity that was blocked by Sfrp1 (604156), a Wnt antagonist. Krylova et al. (2002) concluded that WNT3 acts as a retrograde branching and stop signal for muscle afferents during the formation of sensorimotor circuits in the spinal cord. </p><p>Lie et al. (2005) demonstrated that adult hippocampal stem/progenitor cells (AHPs) express receptors and signaling components for Wnt proteins, which are key regulators of neural stem behavior in embryonic development. Lie et al. (2005) also showed that the Wnt/beta-catenin (116806) pathway is active and that Wnt3 is expressed in the hippocampal neurogenic niche. Overexpression of Wnt3 was sufficient to increase neurogenesis from AHPs in vitro and in vivo. By contrast, blockade of Wnt signaling reduced neurogenesis from AHPs in vitro and abolished neurogenesis almost completely in vivo. Lie et al. (2005) concluded that their data showed that Wnt signaling is a principal regulator of adult hippocampal neurogenesis and provided evidence that Wnt proteins have a role in adult hippocampal function. </p><p>Schmitt et al. (2006) found that Wnt3 is expressed in a medial-lateral decreasing gradient in chick optic tectum and mouse superior colliculus. Retinal ganglion cell axons from different dorsal-ventral positions showed graded and biphasic response to Wnt3 in a concentration-dependent manner. Wnt3 repulsion is mediated by Ryk (600524), expressed in a ventral-to-dorsal decreasing gradient, whereas attraction of dorsal axons at lower Wnt3 concentrations is mediated by Frizzled(s) (see 603408). Overexpression of Wnt3 in the lateral tectum repelled the termination zones of dorsal retinal ganglion cell axons in vivo. Expression of a dominant-negative Ryk in dorsal retinal ganglion cell axons caused a medial shift of the termination zones, promoting medially directed interstitial branches and eliminating laterally directed branches. Therefore, Schmitt et al. (2006) concluded that a classic morphogen, Wnt3, acting as an axon guidance molecule, plays a role in retinotectal mapping along the medial-lateral axis, counterbalancing the medial-directed EphrinB1-EphB (see 300035) activity. </p><p>Farin et al. (2016) generated an epitope-tagged functional Wnt3 knockin allele. Wnt3 covers basolateral membranes of neighboring stem cells. In intestinal organoids Wnt3 transfer involves direct contact between Paneth cells and stem cells. Plasma membrane localization requires surface expression of Frizzled receptors, which in turn is regulated by the transmembrane E3 ligases RNF43 (612482) and ZNRF3 (612062) and their antagonists LGR4 (606666), LGR5 (606667), and R-spondin (609595). By manipulating Wnt3 secretion and by arresting stem cell proliferation, Farin et al. (2016) demonstrated that Wnt3 travels away from its source in a cell-bound manner through cell division, and not through diffusion. The authors concluded that stem cell membranes constitute a reservoir for Wnt proteins, while frizzled receptor turnover and plasma membrane dilution through cell division shape the epithelial Wnt3 gradient. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4 affected fetuses of a consanguineous Turkish family with autosomal recessive tetraamelia syndrome (TETAMS1; 273395), Niemann et al. (2004) identified a homozygous nonsense mutation in the WNT3 gene (165330.0001). Based on the phenotypic findings in the affected patients, Niemann et al. (2004) concluded that WNT3 is required at the early stages of limb formation, as well as for craniofacial and urogenital development. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>For the group of related genes of which the first to be discovered was INT1 (164820), Nusse et al. (1991) suggested the designation Wnt (pronounced 'wint'), a mnemonic for the 'wingless' homolog. The product INT1 (renamed WNT1) encodes a novel secretory glycoprotein similar to the product of the Drosophila melanogaster 'wingless' gene. The INT4 locus was renamed WNT3. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 TETRAAMELIA SYNDROME 1 (1 family)</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WNT3, GLN83TER
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<br />
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SNP: rs104894653,
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ClinVar: RCV000014823
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected fetuses of a consanguineous Turkish family with autosomal recessive tetraamelia syndrome (TETAMS1; 273395), Niemann et al. (2004) identified a homozygous c.366C-T transition in the WNT3 gene, resulting in a gln83-to-ter (Q83X) mutation. The mutation was predicted to result in a truncated protein of only 82 amino acids. Hence, loss of function of both copies of WNT3 is the most likely pathogenic mechanism in these patients. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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Ada Hamosh - updated : 08/01/2016<br>Ada Hamosh - updated : 5/1/2006<br>Ada Hamosh - updated : 11/8/2005<br>Cassandra L. Kniffin - updated : 3/23/2004<br>Dawn Watkins-Chow - updated : 7/18/2003<br>Dawn Watkins-Chow - updated : 2/1/2002<br>Ada Hamosh - updated : 8/2/1999
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Victor A. McKusick : 6/1/1989
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