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Symbol
Name
ID
Col9a1
collagen, type IX, alpha 1
MGI:88465
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microretrognathia
Hypoplasia of the maxilla
Malar flattening
Abnormal dental enamel morphology
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
Joint hypermobility
Bone pain
Knee pain
Abnormal epiphysis morphology
Irregular epiphyses
Small epiphyses
Arthralgia of the hip
Pectus carinatum
Kyphosis
Scoliosis
Intervertebral disk calcification
Abnormal form of the vertebral bodies
Irregular vertebral endplates
Platyspondyly
Schmorl's node
Spinal canal stenosis
Spondylolisthesis
Reduced bone mineral density
Osteoarthritis
Joint dislocation
Skeletal dysplasia
Multiple epiphyseal dysplasia
Disease(s) Associated with COL9A1
multiple epiphyseal dysplasia 6
Stickler syndrome

Mouse Phenotypes
increased chondrocyte proliferation
abnormal bone healing
osteoarthritis
abnormal knee joint morphology
abnormal femur morphology
abnormal tibia morphology
abnormal patella morphology
abnormal articular cartilage morphology
absent cartilage
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
04/09/2024
MGI 6.23
The Jackson Laboratory