|
Symbol Name ID |
Col2a1
collagen, type II, alpha 1 MGI:88452 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Micrognathia |
Microretrognathia |
Trismus |
Hypoplasia of the maxilla |
Malar flattening |
Decreased cranial base ossification |
Macrocephaly |
Coarse facial features |
Pugilistic facies |
Flat face |
Round face |
Midface retrusion |
Prominent forehead |
Long philtrum |
Cleft upper lip |
Submucous cleft hard palate |
Short hard palate |
Bifid uvula |
Cleft palate |
Glossoptosis |
Macroglossia |
Narrow mouth |
Tooth agenesis |
Advanced eruption of teeth |
Abnormal dental enamel morphology |
Carious teeth |
Open bite |
Pierre-Robin sequence |
Anteverted nares |
Depressed nasal ridge |
Depressed nasal bridge |
Short nose |
Epicanthus |
Telecanthus |
| Disease(s) Associated with COL2A1 | ||||||||||||||||||||||||||||||||||||
| achondrogenesis type II | ||||||||||||||||||||||||||||||||||||
| Kniest dysplasia | ||||||||||||||||||||||||||||||||||||
| 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 cranium morphology |
increased cranium length |
small cranium |
abnormal neurocranium 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 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+ | |||||||||||||||||||||||||
| Col2a1tm1.1Ksec/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 04/23/2024 MGI 6.23 |
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