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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
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
Abnormality of the foot
Pes planus
Talipes equinovarus
Short tubular bones of the hand
Limited elbow movement
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
abnormal limb morphology
abnormal autopod morphology
abnormal phalanx morphology
brachydactyly
abnormal forelimb 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
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
Availability Mouse Genotype
Col2a1Dmm/Col2a1Dmm
Col2a1mc13/Col2a1mc13
Col2a1Rgsc413/Col2a1Rgsc413
Col2a1Rgsc856/Col2a1Rgsc856
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Col2a1tm1Dshh/Col2a1tm1Dshh
Col2a1tm1Prc/Col2a1tm1Prc
Col2a1Dmm/Col2a1+
Col2a1Lpk/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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory