Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
Darker colors indicate more annotations |
Human Phenotypes | Cerebral hemorrhage |
Bruising susceptibility |
Abnormal cardiovascular system morphology |
Abnormal endocardium morphology |
Mitral valve prolapse |
Hypertrophic cardiomyopathy |
Aortic aneurysm |
Aortic root aneurysm |
Aortic dissection |
Arterial dissection |
Aortic regurgitation |
Pulmonary insufficiency |
Pulmonary arterial hypertension |
Congestive heart failure |
Splenomegaly |
Visceral angiomatosis |
Disease(s) Associated with COL1A1 | ||||||||||||||||
beta thalassemia | ||||||||||||||||
dentinogenesis imperfecta | ||||||||||||||||
Ehlers-Danlos syndrome arthrochalasia type 1 | ||||||||||||||||
osteogenesis imperfecta | ||||||||||||||||
osteogenesis imperfecta type 1 | ||||||||||||||||
osteogenesis imperfecta type 2 | ||||||||||||||||
osteogenesis imperfecta type 3 |
Mouse Phenotypes | abnormal blood vessel morphology |
abnormal aorta tunica adventitia morphology |
abnormal aorta elastic tissue morphology |
aortic dissection |
abnormal myocardium layer morphology |
myocardium hypertrophy |
heart right ventricle hypertrophy |
abnormal heart septum morphology |
aneurysm |
abnormal cardiovascular system physiology |
lung hemorrhage |
pulmonary alveolar hemorrhage |
hemorrhage |
intracranial hemorrhage |
spinal hemorrhage |
decreased heart left ventricle muscle contractility |
abnormal heart electrocardiography waveform feature |
increased QRS amplitude |
|
Availability | Mouse Genotype | ||||||||||||||||||
Col1a1m1Btlr/Col1a1m1Btlr | |||||||||||||||||||
Col1a1tm1Bst/Col1a1tm1Bst | |||||||||||||||||||
Col1a1Aga2/Col1a1+ | |||||||||||||||||||
Col1a1M1Jrt/Col1a1+ | |||||||||||||||||||
Col1a1tm1.1Jcm/Col1a1+ |
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 |
|
|