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Symbol Name ID |
Col2a1
collagen, type II, alpha 1 MGI:88452 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cystic hygroma |
Short neck |
Stiff neck |
Rhizomelia |
Rhizomelic arm shortening |
Rhizomelic leg shortening |
Abdominal distention |
Protuberant abdomen |
Inguinal hernia |
Umbilical hernia |
Disproportionate short-trunk short stature |
Neonatal short-trunk short stature |
Short stature |
Disproportionate short stature |
Disproportionate short-limb short stature |
Neonatal short-limb short stature |
Severe short stature |
Disproportionate tall stature |
Slender build |
Cachexia |
Growth delay |
| 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 | nasal bone hypoplasia |
short nasal bone |
absent palatal shelf |
midface hypoplasia |
prominent forehead |
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+ | |||||||||||||||||||||||||||
| Col2a1tm1.1Ksec/Col2a1+ | |||||||||||||||||||||||||||
| Col2a1tm1Prc/Col2a1+ | |||||||||||||||||||||||||||
| Tg(Col2a1*G574S)1Waho/0 | |||||||||||||||||||||||||||
| Tg(Col2a1*R789C)#Waho/0 | |||||||||||||||||||||||||||
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 04/16/2024 MGI 6.23 |
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