Symbol
Name
ID

Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
MGI:1891209

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes

Bruising susceptibility

Right ventricular dilatation

Ventricular hypertrophy

Aortic root aneurysm

Ascending tubular aorta aneurysm

Aortic tortuosity

Pulmonary artery dilatation

Pulmonary artery aneurysm

Pulmonary artery stenosis

Carotid artery dissection

Arterial tortuosity

Generalized arterial tortuosity

Vascular tortuosity

Stroke

Ischemic stroke

Aortic regurgitation

Aortic valve stenosis

Tricuspid regurgitation

Pulmonary insufficiency

Hypertension

Pulmonary arterial hypertension

Bradycardia

Telangiectases of the cheeks

Disease(s) Associated with EFEMP2

arterial tortuosity syndrome

autosomal recessive cutis laxa type IB

Mouse Phenotypes

abnormal artery morphology

abnormal aorta morphology

abnormal aorta wall morphology

abnormal aorta tunica media morphology

abnormal aorta elastic tissue morphology

abnormal aorta elastic fiber morphology

abnormal aorta smooth muscle morphology

increased aorta wall thickness

abnormal descending aorta morphology

descending aorta stenosis

abnormal aortic arch morphology

abnormal ascending aorta morphology

dilated aorta bulb

ascending aorta aneurysm

dilated ascending aorta

increased carotid artery tortuosity

artery stenosis

increased artery tortuosity

abnormal vascular smooth muscle morphology

vascular smooth muscle hyperplasia

heart left ventricle hypertrophy

enlarged heart

aneurysm

hemorrhage

aortic valve regurgitation

increased pulse pressure

decreased systemic arterial diastolic blood pressure

abnormal blood vessel physiology

increased vascular endothelial cell apoptosis

increased vascular endothelial cell proliferation

abnormal vascular smooth muscle physiology

increased vascular smooth muscle cell proliferation

Availability

Mouse Genotype

Efemp2^tm1.1Chu/Efemp2^tm1.1Chu

Efemp2^tm1.2Hiya/Efemp2^tm1.2Hiya

Efemp2^tm1.2Tynk/Efemp2^tm1.2Tynk

Efemp2^tm1Dgen/Efemp2^tm1Dgen

Efemp2^tm1.1Chu/Efemp2⁺

Efemp2^tm1Dgen/Efemp2⁺

Efemp2^tm1.1Tynk/Efemp2^tm1.1Tynk
Tg(Tagln-cre)1Her/0 (conditional)

Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya
Tg(Tagln-cre)1Her/0 (conditional)

Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk
Tg(Tagln-cre)1Her/0 (conditional)

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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