Symbol
Name
ID

Fbln5
fibulin 5
MGI:1346091

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes	Ascending tubular aorta aneurysm	Peripheral pulmonary artery stenosis	Vascular tortuosity	Aortic regurgitation	Supravalvular aortic stenosis	Mitral regurgitation
Disease(s) Associated with FBLN5	Ascending tubular aorta aneurysm	Peripheral pulmonary artery stenosis	Vascular tortuosity	Aortic regurgitation	Supravalvular aortic stenosis	Mitral regurgitation
autosomal dominant cutis laxa 2
autosomal recessive cutis laxa type IA

Mouse Phenotypes

abnormal aorta morphology

abnormal aorta elastic fiber morphology

abnormal aortic arch and aortic arch branch attachment

abnormal ascending aorta morphology

abnormal blood vessel elastic tissue morphology

decreased angiogenesis

dilated heart right ventricle

abnormal pulmonary circulation

abnormal systemic arterial blood pressure

abnormal blood vessel physiology

abnormal vascular smooth muscle physiology

abnormal vascular wound healing

Availability

Mouse Genotype

Fbln5^tm1.1Hiya/Fbln5^tm1.1Hiya

Fbln5^tm1Eno/Fbln5^tm1Eno

Fbln5^tm1Krc/Fbln5^tm1Krc

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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