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Symbol
Name
ID
Col9a1
collagen, type IX, alpha 1
MGI:88465
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Abnormal diaphysis morphology
Genu valgum
Arachnodactyly
Flat distal femoral epiphysis
Irregular distal femoral epiphysis
Flat capital femoral epiphysis
Proximal femoral epiphysiolysis
Protrusio acetabuli
Hip dislocation
Abnormality of the knee
Disease(s) Associated with COL9A1
multiple epiphyseal dysplasia 6
Stickler syndrome

Mouse Phenotypes
abnormal knee joint morphology
abnormal femur morphology
abnormal tibia morphology
abnormal patella morphology
Availability Mouse Genotype
Col9a1tm1Jae/Col9a1tm1Jae

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
04/23/2024
MGI 6.23
The Jackson Laboratory