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Symbol
Name
ID
Col3a1
collagen, type III, alpha 1
MGI:88453
Phenotype annotations related to cardiovascular system
*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+

Contributing Projects:
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
05/14/2024
MGI 6.23
The Jackson Laboratory