Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.
|Process||blood vessel development, cell adhesion, ...|
|Component||basement membrane, collagen trimer, ...|
|Function||extracellular matrix structural constituent, heparin binding, ...|
|VEGA Gene Model||OTTMUSG00000011567 (Evidence)|
|Ensembl Gene Model||ENSMUSG00000026837 (Evidence)|
|Entrez Gene||12831 (Evidence)|
|DFCI||TC1575549, TC1660590, TC1662370|
|NIA Mouse Gene Index||U042269|
|Consensus CDS Project||CCDS15831.1|
|International Mouse Knockout Project Status||Col5a1|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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