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Symbol
Name
ID 		Col2a1
collagen, type II, alpha 1
MGI:88452
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Hip contracture
Micrognathia
Malar flattening
Short neck
Short phalanx of finger
Long fingers
Arachnodactyly
Brachydactyly
Abnormality of femoral epiphysis
Avascular necrosis of the capital femoral epiphysis
Irregular femoral epiphysis
Coxa valga
Coxa vara
Club-shaped proximal femur
Delayed calcaneal ossification
Metaphyseal irregularity
Metaphyseal dappling
Dumbbell-shaped long bone
Flared metaphysis
Genu valgum
Short palm
Hip dislocation
Limitation of knee mobility
Short tubular bones of the hand
Limited elbow movement
Delayed epiphyseal ossification
Enlarged epiphyses
Flattened, squared-off epiphyses of tubular bones
Epiphyseal dysplasia
Flattened epiphysis
Splayed epiphyses
Broad long bones
Short long bone
Delayed pubic bone ossification
Narrow greater sacrosciatic notches
Hypoplastic iliac wing
Hypoplastic pubic bone
Hypoplastic pelvis
Limited hip movement
Short ribs
Anterior rib cupping
Horizontal ribs
Barrel-shaped chest
Pectus carinatum
Pectus excavatum
Beaking of vertebral bodies
Ovoid vertebral bodies
Platyspondyly
Coronal cleft vertebrae
Absent vertebral body mineralization
Morbus Scheuermann
C1-C2 subluxation
Hyperlordosis
Lumbar hyperlordosis
Kyphosis
Lumbar kyphoscoliosis
Scoliosis
Hypoplasia of the odontoid process
Spondylolisthesis
Disproportionate short-trunk short stature
Neonatal short-trunk short stature
Abnormal cartilage collagen
Osteoarthritis
Premature osteoarthritis
Arthropathy
Enlarged joints
Spondyloepimetaphyseal dysplasia
Spondyloepiphyseal dysplasia
Joint hypermobility
Limitation of joint mobility
Delayed skeletal maturation
Disease(s) Associated with COL2A1
achondrogenesis type II
Kniest dysplasia
Legg-Calve-Perthes disease
multiple epiphyseal dysplasia with myopia and deafness
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome

Mouse Phenotypes
skeleton phenotype
increased chondrocyte apoptosis
decreased chondrocyte proliferation
abnormal craniofacial bone morphology
abnormal cranium morphology
abnormal basicranium morphology
increased cranium length
small cranium
abnormal neurocranium morphology
abnormal hyoid bone morphology
short mandible
premaxilla hypoplasia
maxilla hypoplasia
retrognathia
nasal bone hypoplasia
short nasal bone
short facial bone
domed cranium
abnormal phalanx morphology
abnormal elbow joint morphology
increased diameter of humerus
short humerus
radius hypoplasia
short radius
increased diameter of radius
abnormal ulna morphology
short ulna
increased diameter of ulna
short femur
increased diameter of femur
increased diameter of fibula
short fibula
increased diameter of tibia
short tibia
abnormal limb bone morphology
abnormal limb long bone morphology
abnormal skeleton morphology
abnormal long bone morphology
abnormal long bone epiphyseal plate morphology
abnormal long bone epiphyseal ossification zone morphology
abnormal long bone epiphyseal plate proliferative zone
abnormal long bone hypertrophic chondrocyte zone
decreased width of hypertrophic chondrocyte zone
disorganized long bone epiphyseal plate
increased long bone epiphyseal plate size
abnormal long bone epiphysis morphology
abnormal long bone metaphysis morphology
decreased length of long bones
increased diameter of long bones
abnormal scapula morphology
abnormal pelvic girdle bone morphology
abnormal axial skeleton morphology
abnormal thoracic cage morphology
abnormal rib morphology
short ribs
small thoracic cage
absent intervertebral disk
abnormal vertebrae morphology
short lumbar vertebrae
abnormal vertebrae development
abnormal vertebral arch morphology
abnormal vertebral body morphology
enlarged vertebral body
platyspondylia
vertebral body hypoplasia
short vertebral column
abnormal bone structure
abnormal bone marrow cavity morphology
decreased bone mineral density
decreased trabecular bone volume
decreased bone volume
increased compact bone thickness
abnormal trabecular bone morphology
decreased bone trabecula number
abnormal cartilage morphology
abnormal cartilage development
abnormal chondrocyte morphology
abnormal articular cartilage morphology
abnormal perichondrium morphology
abnormal skeleton development
abnormal epiphyseal plate morphology
chondrodystrophy
abnormal skeleton physiology
abnormal bone ossification
abnormal endochondral bone ossification
delayed endochondral bone ossification
delayed bone ossification
abnormal chondrocyte physiology
abnormal joint mobility
Availability Mouse Genotype
Col2a1Dmm/Col2a1Dmm
Col2a1Lpk/Col2a1Lpk
Col2a1mc13/Col2a1mc13
Col2a1Rgsc413/Col2a1Rgsc413
Col2a1Rgsc856/Col2a1Rgsc856
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Col2a1tm1Dshh/Col2a1tm1Dshh
Col2a1tm1Prc/Col2a1tm1Prc
Col2a1Dmm/Col2a1+
Col2a1Lpk/Col2a1+
Col2a1M2J/Col2a1+
Col2a1Rgsc413/Col2a1+
Col2a1Rgsc856/Col2a1+ *
Col2a1tm1(SOX9)Crm/Col2a1+
Col2a1tm1Prc/Col2a1+
Tg(Col2a1*R789C)#Waho/0
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
10/08/2019
MGI 6.14 		The Jackson Laboratory