Symbol Name ID |
Col2a1
collagen, type II, alpha 1 MGI:88452 |
Darker colors indicate more annotations |
Human Phenotypes | Recurrent respiratory infections |
Abnormal respiratory system physiology |
Respiratory distress |
Pulmonary hypoplasia |
Tracheomalacia |
Laryngotracheomalacia |
Restrictive ventilatory defect |
Disease(s) Associated with COL2A1 | |||||||
Kniest dysplasia | |||||||
spondyloepimetaphyseal dysplasia, Strudwick type | |||||||
spondyloepiphyseal dysplasia congenita | |||||||
Stickler syndrome | |||||||
Torrance type platyspondylic dysplasia |
Mouse Phenotypes | nasal bone hypoplasia |
short nasal bone |
absent nasal cavity |
absent nasal septum |
pulmonary hypoplasia |
abnormal pulmonary alveolus morphology |
abnormal lung volume |
respiratory distress |
|
Availability | Mouse Genotype | ||||||||
Col2a1Dmm/Col2a1Dmm | |||||||||
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec | |||||||||
Col2a1tm1Dshh/Col2a1tm1Dshh | |||||||||
Col2a1tm1Prc/Col2a1tm1Prc | |||||||||
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) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 08/02/2024 MGI 6.24 |
|
|