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Symbol
Name
ID 		Col1a2
collagen, type I, alpha 2
MGI:88468
Phenotype annotations related to skeleton
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Prominent occiput
Brachycephaly
Decreased calvarial ossification
Absent ossification of calvaria
Platybasia
Micrognathia
Basilar impression
Basilar invagination
Decreased skull ossification
Macrocephaly
Relative macrocephaly
Wormian bones
Wide anterior fontanel
Large fontanelles
Abnormal dental enamel morphology
Dentinogenesis imperfecta
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
Protrusio acetabuli
Hip dislocation
Genu recurvatum
Limb undergrowth
Micromelia
Rhizomelia
Flexion contracture
Joint hypermobility
Bone pain
Increased susceptibility to fractures
Bowing of limbs due to multiple fractures
Multiple prenatal fractures
Recurrent fractures
Fractures of the long bones
Abnormal long bone morphology
Broad long bones
Crumpled long bones
Slender long bone
Abnormal pelvic girdle bone morphology
Abnormal hip bone morphology
Abnormal rib morphology
Multiple rib fractures
Thin ribs
Bell-shaped thorax
Pectus carinatum
Pectus excavatum
Thoracic hypoplasia
Narrow chest
Cervical kyphosis
Hyperlordosis
Kyphosis
Scoliosis
Abnormal form of the vertebral bodies
Biconcave vertebral bodies
Biconcave flattened vertebrae
Platyspondyly
Enlarged vertebral pedicles
Vertebral compression fracture
Reduced bone mineral density
Osteopenia
Osteoporosis
Severe generalized osteoporosis
Abnormal cortical bone morphology
Osteoarthritis
Joint subluxation
Hyperplastic callus formation
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
osteoporosis

Mouse Phenotypes
abnormal knee joint morphology
abnormal femur morphology
abnormal tibia morphology
camptomelia
abnormal caudal vertebrae morphology
abnormal tendon morphology
decreased tendon stiffness
abnormal long bone morphology
kyphosis
scoliosis
decreased bone mineral content
increased bone mineral content
increased volumetric bone mineral density
decreased bone mineral density
increased bone mineral density
decreased bone volume
abnormal compact bone morphology
decreased compact bone area
abnormal compact bone lamellar structure
decreased compact bone thickness
increased osteocyte number
decreased bone trabecula number
abnormal joint morphology
abnormal bone mineralization
decreased bone strength
fragile skeleton
Availability Mouse Genotype
Col1a2oim/Col1a2oim
Col1a2tm1b(EUCOMM)Wtsi/Col1a2tm1b(EUCOMM)Wtsi
Col1a2oim/Col1a2+
Col1a2tm1.1Mcbr/Col1a2+ !
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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory