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Symbol
Name
ID
Col5a1
collagen, type V, alpha 1
MGI:88457
Phenotype annotations related to cardiovascular system
Darker colors indicate more annotations
Human Phenotypes
Bruising susceptibility
Mitral valve prolapse
Aortic root aneurysm
Disease(s) Associated with COL5A1
Ehlers-Danlos syndrome classic type 1

Mouse Phenotypes
abnormal blood vessel morphology
abnormal aorta morphology
Availability Mouse Genotype
Col5a1tm1Rjw/Col5a1tm1Rjw
Col5a1tm1Rjw/Col5a1+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory