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Symbol
Name
ID
Col5a1
collagen, type V, alpha 1
MGI:88457
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Ectopia lentis
Blue sclerae
Myopia
Disease(s) Associated with COL5A1
Ehlers-Danlos syndrome classic type 1

Mouse Phenotypes
decreased cornea stroma thickness
abnormal cornea stroma morphology
abnormal cornea anterior stroma morphology
abnormal cornea posterior stroma morphology
abnormal cornea stroma collagen fibril morphology
cornea opacity
increased corneal light-scattering
Availability Mouse Genotype
Col5a1tm2.1Rjw/Col5a1tm2.1Rjw
Tg(Kera-cre)KC4.3Wwk/0  (conditional)

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