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Symbol
Name
ID
Col2a1
collagen, type II, alpha 1
MGI:88452
Phenotype annotations related to growth/size/body
Darker colors indicate more annotations
Human Phenotypes
Inguinal hernia
Umbilical hernia
Cystic hygroma
Short neck
Abdominal distention
Protuberant abdomen
Disproportionate short-trunk short stature
Neonatal short-trunk short stature
Short stature
Disproportionate short-limb short stature
Severe short stature
Disproportionate tall stature
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
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
decreased embryo size
decreased body weight
increased body weight
abnormal chest morphology
abnormal head morphology
microcephaly
abnormal postnatal growth/weight/body size
decreased body length
decreased body size
disproportionate dwarf
decreased fetal size
distended abdomen
Availability Mouse Genotype
Col2a1Dmm/Col2a1Dmm
Col2a1Lpk/Col2a1Lpk
Col2a1mc13/Col2a1mc13
Col2a1Rgsc413/Col2a1Rgsc413
Col2a1Rgsc856/Col2a1Rgsc856
Col2a1sedc/Col2a1sedc
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Col2a1tm1Dshh/Col2a1tm1Dshh
Col2a1tm1Prc/Col2a1tm1Prc
Col2a1Dmm/Col2a1+
Col2a1Lpk/Col2a1+
Col2a1M2J/Col2a1+
Col2a1M3J/Col2a1+
Col2a1Rgsc856/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 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