Symbol
Name
ID

Mthfd1
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
MGI:1342005

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes

Abnormal cardiovascular system morphology

Left atrial enlargement

Atrial septal defect

Patent foramen ovale

Secundum atrial septal defect

Ventricular septal defect

Muscular ventricular septal defect

Atrioventricular canal defect

Complete atrioventricular canal defect

Hypoplasia of right ventricle

Double inlet left ventricle

Double outlet right ventricle

Tetralogy of Fallot

Mitral valve prolapse

Ebstein anomaly of the tricuspid valve

Tricuspid atresia

Tricuspid valve prolapse

Left aortic arch with cervical origin of the right subclavian artery

Abdominal aortic aneurysm

Pulmonary artery atresia

Pulmonary artery stenosis

Partial anomalous pulmonary venous return

Patent ductus arteriosus

Arteria lusoria

Mitral regurgitation

Mitral stenosis

Tricuspid regurgitation

Tricuspid stenosis

Pulmonic stenosis

Subpulmonary stenosis

Valvular pulmonary stenosis

Abnormality of the lymphatic system

Disease(s) Associated with MTHFD1

abdominal aortic aneurysm

developmental cardiac valvular defect

Down syndrome

tetralogy of Fallot

Mouse Phenotypes		abnormal heart morphology
Availability	Mouse Genotype	abnormal heart morphology
	Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn

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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