Symbol Name ID |
Col3a1
collagen, type III, alpha 1 MGI:88453 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Internal hemorrhage |
Diffuse alveolar hemorrhage |
Recurrent intrapulmonary hemorrhage |
Bruising susceptibility |
Ecchymosis |
Abnormal cardiovascular system morphology |
Abnormal heart valve morphology |
Mitral valve prolapse |
Ascending aortic dissection |
Aortic aneurysm |
Ascending tubular aorta aneurysm |
Aortic dissection |
Descending aortic dissection |
Pulmonary artery aneurysm |
Carotid cavernous fistula |
Dilatation of the cerebral artery |
Arterial dissection |
Arterial stenosis |
Arteriovenous fistulas of celiac and mesenteric vessels |
Varicose veins |
Arteriovenous fistula |
Peripheral arteriovenous fistula |
Vascular dilatation |
Transient ischemic attack |
Hypertension |
Renovascular hypertension |
Arterial rupture |
Telangiectasia of the skin |
Disease(s) Associated with COL3A1 | ||||||||||||||||||||||||||||
Ehlers-Danlos syndrome hypermobility type | ||||||||||||||||||||||||||||
vascular type Ehlers-Danlos syndrome |
Mouse Phenotypes | cardiovascular system phenotype |
abnormal blood vessel morphology |
abnormal aorta wall morphology |
abnormal aorta elastic tissue morphology |
abnormal aorta smooth muscle morphology |
aortic dissection |
abnormal subendocardium layer morphology |
increased systemic arterial systolic blood pressure |
increased vasoconstriction |
|
Availability | Mouse Genotype | |||||||||
Col3a1tm1Jae/Col3a1tm1Jae | * | |||||||||
Col3a1m1Lsmi/Col3a1+ |
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 05/14/2024 MGI 6.23 |
|
|