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Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to limbs/digits/tail
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
Availability Mouse Genotype
Col1a1m1Btlr/Col1a1m1Btlr
Col1a1tm1Jae/Col1a1tm1Jae
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+
Col1a1tm1.1Jcm/Col1a1+

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
03/19/2024
MGI 6.23
The Jackson Laboratory