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Symbol
Name
ID
Ncf1
neutrophil cytosolic factor 1
MGI:97283
Phenotype annotations related to cardiovascular system
Darker colors indicate more annotations
Human Phenotypes
Retinal arteriolar tortuosity
Atrial septal defect
Ventricular septal defect
Bicuspid aortic valve
Mitral valve prolapse
Myxomatous mitral valve degeneration
Peripheral pulmonary artery stenosis
Coronary artery stenosis
Renal artery stenosis
Stroke
Supravalvular aortic stenosis
Mitral regurgitation
Pulmonic stenosis
Hypertension
Portal hypertension
Lymphadenitis
Lymphadenopathy
Mediastinal lymphadenopathy
Splenomegaly
Disease(s) Associated with NCF1
autosomal recessive chronic granulomatous disease 1
chronic granulomatous disease
Williams-Beuren syndrome

Mouse Phenotypes
abnormal angiogenesis
abnormal heart morphology
increased heart atrium size
cardiac hypertrophy
dilated heart left ventricle
abnormal cardiovascular system physiology
abnormal cardiac muscle contractility
abnormal response to cardiac infarction
increased systemic arterial blood pressure
abnormal vascular endothelial cell physiology
abnormal vascular smooth muscle physiology
decreased vasoconstriction
abnormal vascular wound healing
Availability Mouse Genotype
Ncf1em1(IMPC)Mbp/Ncf1em1(IMPC)Mbp
Ncf1tm1Hbd/Ncf1tm1Hbd
Ncf1tm1Shl/Ncf1tm1Shl

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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last database update
05/28/2024
MGI 6.13
The Jackson Laboratory