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Symbol
Name
ID
Col9a2
collagen, type IX, alpha 2
MGI:88466
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Micrognathia
Microretrognathia
Hypoplasia of the maxilla
Malar flattening
Abnormal dental enamel morphology
Abnormal diaphysis morphology
Genu valgum
Genu varum
Arachnodactyly
Proximal femoral epiphysiolysis
Tibial torsion
Short palm
Protrusio acetabuli
Hip dislocation
Flattened knee epiphyses
Knee osteoarthritis
Joint hypermobility
Osteochondritis dissecans
Bone pain
Foot pain
Knee pain
Abnormal epiphysis morphology
Epiphyseal dysplasia
Flattened epiphysis
Irregular epiphyses
Small epiphyses
Hip dysplasia
Pectus carinatum
Kyphosis
Scoliosis
Abnormal form of the vertebral bodies
Platyspondyly
Spinal canal stenosis
Spondylolisthesis
Reduced bone mineral density
Osteoarthritis
Joint dislocation
Skeletal dysplasia
Disease(s) Associated with COL9A2
multiple epiphyseal dysplasia 2
Stickler syndrome

Mouse Phenotypes
abnormal humerus morphology
abnormal radius morphology
abnormal ulna morphology
abnormal femur morphology
abnormal tibia morphology
short tibia
abnormal pelvic girdle bone morphology
abnormal joint morphology
Availability Mouse Genotype
Col9a2tm1b(EUCOMM)Wtsi/Col9a2tm1b(EUCOMM)Wtsi

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
04/16/2024
MGI 6.23
The Jackson Laboratory