Symbol
Name
ID

Smad6
SMAD family member 6
MGI:1336883

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes	Patent foramen ovale	Bicuspid aortic valve	Ascending aortic dissection	Aortic aneurysm	Aortic tortuosity	Calcification of the aorta	Coarctation of aorta	Aortic regurgitation	Aortic valve stenosis	Mitral regurgitation	Pulmonic stenosis
Disease(s) Associated with SMAD6
aortic valve disease 2

Mouse Phenotypes

abnormal aorta morphology

abnormal cardiac epithelial to mesenchymal transition

abnormal truncus arteriosus septation

abnormal heart morphology

abnormal coronary vessel morphology

double outlet right ventricle

overriding aortic valve

d-loop transposition of the great arteries

mitral valve hyperplasia

tricuspid valve atresia

abnormal endocardium morphology

perimembraneous ventricular septal defect

muscular ventricular septal defect

abnormal heart valve morphology

pulmonary valve hyperplasia

heart valve hyperplasia

abnormal cardiovascular system physiology

poor circulation

increased systemic arterial blood pressure

abnormal blood vessel physiology

decreased vasodilation

Availability

Mouse Genotype

Smad6^b2b390Clo/Smad6^b2b390Clo

Smad6^tm1Glvn/Smad6^tm1Glvn

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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