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Symbol
Name
ID
Col2a1
collagen, type II, alpha 1
MGI:88452
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Flat face
Round face
Malar flattening
Midface retrusion
Cleft palate
Bifid uvula
Pierre-Robin sequence
Anteverted nares
Depressed nasal bridge
Proptosis
Micrognathia
Disease(s) Associated with COL2A1
achondrogenesis type II
Kniest dysplasia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome

Mouse Phenotypes
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
absent palatal shelf
midface hypoplasia
prominent forehead
cleft secondary palate
cleft palate
protruding tongue
absent nasal cavity
absent nasal septum
abnormal snout morphology
short snout
abnormal head shape
proboscis
shortened head
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+
Col2a1M3J/Col2a1+
Col2a1tm1(SOX9)Crm/Col2a1+
Col2a1tm1.1Ksec/Col2a1+
Col2a1tm1Prc/Col2a1+
Tg(Col2a1*R789C)#Waho/0

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory