Symbol
Name
ID

Nf1
neurofibromin 1
MGI:97306

Phenotype annotations related to cardiovascular system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Secundum atrial septal defect	Hypertrophic cardiomyopathy	Renal artery stenosis	Arterial stenosis	Pulmonic stenosis	Hypertension	Abnormality of the lymphatic system
Disease(s) Associated with NF1	Secundum atrial septal defect	Hypertrophic cardiomyopathy	Renal artery stenosis	Arterial stenosis	Pulmonic stenosis	Hypertension	Abnormality of the lymphatic system
neurofibromatosis 1
neurofibromatosis-Noonan syndrome
Watson syndrome

Mouse Phenotypes

cardiovascular system phenotype

abnormal vein morphology

blood vessel congestion

abnormal myocardium layer morphology

thin myocardium compact layer

disorganized myocardium

thin myocardium

persistent truncus arteriosus

abnormal heart development

abnormal fetal atrioventricular canal morphology

abnormal atrioventricular cushion morphology

increased atrioventricular cushion size

double outlet right ventricle

abnormal mitral valve cusp morphology

ventricular septal defect

globular heart

enlarged heart

heart hypoplasia

abnormal heart valve morphology

distended pericardium

pericardial effusion

hemorrhage

liver hemorrhage

Availability

Mouse Genotype

Nf1^tm1.1Kest/Nf1^tm1.1Kest

Nf1^tm1Fcr/Nf1^tm1Fcr

Nf1^tm1Tyj/Nf1^tm1Tyj

Nf1^tm1Fcr/Nf1^tm1.1Par

Nf1^tm1Par/Nf1^tm1Par
Tg(Tek-cre)1Ywa/0 (conditional)

Nf1^tm1Par/Nf1^tm1Par
Tg(Mpz-cre)94Imeg/0 (conditional)

Nf1^tm1Par/Nf1^tm1Par
Tg(Pax3-cre)1Joe/0 (conditional)

Nf1^tm1Par/Nf1^tm1Par
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (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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