Symbol
Name
ID

Col1a2
collagen, type I, alpha 2
MGI:88468

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Bowing of the long bones

Femoral bowing

Femoral bowing present at birth, straightening with time

Genu valgum

Tibial bowing

Diaphyseal undertubulation

Hyperextensibility of the finger joints

Hallux valgus

Abnormal femur morphology

Abnormal tibia morphology

Calcaneovalgus deformity

Abnormal metaphysis morphology

Dislocated radial head

Pes planus

Talipes equinovarus

Protrusio acetabuli

Hip dislocation

Genu recurvatum

Calcification of the interosseus membrane of the forearm

Limb undergrowth

Micromelia

Rhizomelia

Disease(s) Associated with COL1A2

Ehlers-Danlos syndrome arthrochalasia type 2

Ehlers-Danlos syndrome cardiac valvular type

osteogenesis imperfecta

osteogenesis imperfecta type 2

osteogenesis imperfecta type 3

osteogenesis imperfecta type 4

Mouse Phenotypes		abnormal forelimb morphology	abnormal knee joint morphology	abnormal femur morphology	abnormal tibia morphology	camptomelia	abnormal caudal vertebrae morphology
Availability	Mouse Genotype	abnormal forelimb morphology	abnormal knee joint morphology	abnormal femur morphology	abnormal tibia morphology	camptomelia	abnormal caudal vertebrae morphology
	Col1a2^oim/Col1a2^oim
	Col1a2^{tm1b(EUCOMM)Wtsi}/Col1a2^{tm1b(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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23