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Symbol
Name
ID 		Col2a1
collagen, type II, alpha 1
MGI:88452
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Abnormal diaphysis morphology
Bowing of the long bones
Radial bowing
Genu valgum
Genu varum
Tibial bowing
Short distal phalanx of the 2nd finger
Short distal phalanx of the 3rd finger
Short distal phalanx of the 4th finger
Short distal phalanx of the 5th finger
Short distal phalanx of finger
Cone-shaped epiphyses of the phalanges of the hand
Shortening of all middle phalanges of the fingers
Reduced proximal interphalangeal joint space
Shortening of all proximal phalanges of the fingers
Short phalanx of finger
Broad thumb
Short thumb
Arachnodactyly
Broad hallux
Short toe
Clinodactyly
Brachydactyly
Type E brachydactyly
Abnormal femoral epiphysis morphology
Hypoplasia of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis
Flat capital femoral epiphysis
Proximal femoral epiphysiolysis
Irregular femoral epiphysis
Abnormality of tibial epiphyses
Absent styloid process of ulna
Flattened femoral head
Coxa valga
Coxa vara
Short femoral neck
Club-shaped proximal femur
Dumbbell-shaped femur
Short metatarsal
Internal tibial torsion
Delayed calcaneal ossification
Short foot
Abnormal hand metaphysis morphology
Metaphyseal cupping
Metaphyseal irregularity
Metaphyseal dappling
Metaphyseal spurs
Dumbbell-shaped long bone
Flared metaphysis
Hypoplasia of the ulna
Flattened humeral heads
Abnormal metacarpophalangeal joint morphology
Short metacarpal
Aplasia/hypoplasia involving bones of the extremities
Short palm
Abnormal foot morphology
Pes planus
Talipes
Talipes equinovarus
Abnormal hip joint morphology
Abnormal acetabulum morphology
Acetabular spurs
Flat acetabular roof
Protrusio acetabuli
Hip contracture
Hip dislocation
Double-layered patella
Limitation of knee mobility
Pedal edema
Abnormal carpal morphology
Delayed ossification of carpal bones
Short tubular bones of the hand
Broad palm
Limited elbow movement
Limited elbow extension
Limb undergrowth
Micromelia
Severe limb shortening
Rhizomelia
Rhizomelic arm shortening
Rhizomelic leg shortening
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
spondyloepiphyseal dysplasia Stanescu type
spondyloperipheral dysplasia
Stickler syndrome
Stickler syndrome 1
Torrance type platyspondylic dysplasia

Mouse Phenotypes
abnormal limb morphology
decreased autopod size
abnormal phalanx morphology
brachydactyly
abnormal forelimb morphology
abnormal elbow joint morphology
increased diameter of humerus
short humerus
short radius
increased diameter of radius
abnormal ulna morphology
short ulna
increased diameter of ulna
short forelimb
abnormal hindlimb morphology
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
short limbs
micromelia
abnormal tail morphology
short tail
Availability Mouse Genotype
Col2a1Dmm/Col2a1Dmm
Col2a1m1Btlr/Col2a1m1Btlr
Col2a1mc13/Col2a1mc13
Col2a1Rgsc413/Col2a1Rgsc413
Col2a1Rgsc856/Col2a1Rgsc856
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Col2a1tm1Dshh/Col2a1tm1Dshh
Col2a1tm1Prc/Col2a1tm1Prc
Col2a1Dmm/Col2a1+
Col2a1Lpk/Col2a1+
Col2a1m1Btlr/Col2a1+
Col2a1Rgsc413/Col2a1+
Col2a1Rgsc856/Col2a1+
Col2a1tm1Prc/Col2a1+
Tg(Col2a1*G574S)1Waho/0
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
04/16/2024
MGI 6.23 		The Jackson Laboratory