Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
Darker colors indicate more annotations |
Human Phenotypes | Bowing of the long bones |
Bowing of the legs |
Femoral bowing |
Femoral bowing present at birth, straightening with time |
Genu valgum |
Tibial bowing |
Diaphyseal undertubulation |
Contracture of the proximal interphalangeal joint of the 2nd finger |
Contracture of the proximal interphalangeal joint of the 3rd finger |
Finger joint hypermobility |
Hallux valgus |
Abnormal femur morphology |
Abnormal tibia morphology |
Abnormal metaphysis morphology |
Dislocated radial head |
Palmoplantar hyperkeratosis |
Pes planus |
Protrusio acetabuli |
Congenital bilateral hip dislocation |
Knee joint hypermobility |
Congenital knee dislocation |
Calcification of the interosseus membrane of the forearm |
Limb undergrowth |
Micromelia |
Rhizomelia |
Disease(s) Associated with COL1A1 | |||||||||||||||||||||||||
aggressive periodontitis | |||||||||||||||||||||||||
Caffey disease | |||||||||||||||||||||||||
dentinogenesis imperfecta | |||||||||||||||||||||||||
Ehlers-Danlos syndrome arthrochalasia type 1 | |||||||||||||||||||||||||
osteogenesis imperfecta | |||||||||||||||||||||||||
osteogenesis imperfecta type 1 | |||||||||||||||||||||||||
osteogenesis imperfecta type 2 | |||||||||||||||||||||||||
osteogenesis imperfecta type 3 | |||||||||||||||||||||||||
osteogenesis imperfecta type 4 |
Mouse Phenotypes | abnormal limb morphology |
abnormal autopod morphology |
abnormal olecranon morphology |
abnormal femur morphology |
decreased diameter of femur |
short femur |
abnormal fibula morphology |
abnormal tibia morphology |
abnormal limb bone morphology |
short limbs |
thin tail |
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Availability | Mouse Genotype | |||||||||||
Col1a1m1Btlr/Col1a1m1Btlr | ||||||||||||
Col1a1tm1Jae/Col1a1tm1Jae | ||||||||||||
Col1a1Aga2/Col1a1+ | ||||||||||||
Col1a1M1Jrt/Col1a1+ | ||||||||||||
Col1a1tm1.1Jcm/Col1a1+ |
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 08/02/2024 MGI 6.24 |
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