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Symbol
Name
ID

Col1a1
collagen, type I, alpha 1
MGI:88467

Phenotype annotations related to cardiovascular system

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 ventricle muscle contractility

abnormal heart electrocardiography waveform feature

increased QRS amplitude

Availability

Mouse Genotype

Col1a1^m1Btlr/Col1a1^m1Btlr

Col1a1^tm1Bst/Col1a1^tm1Bst

Col1a1^Aga2/Col1a1⁺

Col1a1^M1Jrt/Col1a1⁺

Col1a1^tm1.1Jcm/Col1a1⁺

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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