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Symbol Name ID |
Col1a2
collagen, type I, alpha 2 MGI:88468 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cerebral hemorrhage |
Bruising susceptibility |
Abnormal cardiovascular system morphology |
Abnormal endocardium morphology |
Mitral valve prolapse |
Aortic aneurysm |
Aortic root aneurysm |
Aortic dissection |
Arterial dissection |
Aortic regurgitation |
Mitral regurgitation |
Pulmonary insufficiency |
Pulmonary arterial hypertension |
Congestive heart failure |
Visceral angiomatosis |
| Disease(s) Associated with COL1A2 | |||||||||||||||
| Ehlers-Danlos syndrome arthrochalasia type 2 | |||||||||||||||
| Ehlers-Danlos syndrome cardiac valvular type | |||||||||||||||
| osteogenesis imperfecta | |||||||||||||||
| osteogenesis imperfecta type 2 | |||||||||||||||
| osteogenesis imperfecta type 3 |
| Mouse Phenotypes | increased heart weight |
enlarged heart |
dilated heart left ventricle |
hemorrhage |
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| Availability | Mouse Genotype | ||||
| Col1a2oim/Col1a2oim | |||||
| Col1a2tm1b(EUCOMM)Wtsi/Col1a2tm1b(EUCOMM)Wtsi | |||||
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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