Symbol
Name
ID

Fgfr2
fibroblast growth factor receptor 2
MGI:95523

Phenotype annotations related to cardiovascular system

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

Human Phenotypes	Conjunctivitis	Abnormal cardiovascular system morphology	Abnormal heart morphology	Atrial septal defect	Ventricular septal defect	Mitral valve prolapse	Aortic aneurysm	Overriding aorta	Systolic heart murmur	Aortic valve stenosis	Hypertension
Disease(s) Associated with FGFR2	Conjunctivitis	Abnormal cardiovascular system morphology	Abnormal heart morphology	Atrial septal defect	Ventricular septal defect	Mitral valve prolapse	Aortic aneurysm	Overriding aorta	Systolic heart murmur	Aortic valve stenosis	Hypertension
acrocephalosyndactylia
Antley-Bixler syndrome without disordered steroidogenesis
Beare-Stevenson cutis gyrata syndrome
craniosynostosis
Crouzon syndrome
lacrimoauriculodentodigital syndrome 1
Saethre-Chotzen syndrome

Mouse Phenotypes

cardiovascular system phenotype

absent pulmonary artery

abnormal placenta vasculature

absent pulmonary vein

abnormal trabecula carnea morphology

thin left ventricle myocardium compact layer

abnormal conotruncal ridge morphology

conotruncal ridge hypoplasia

abnormal truncus arteriosus septation

abnormal heart development

double outlet right ventricle

overriding aortic valve

heart left atrium hypoplasia

dilated heart atrium

perimembraneous ventricular septal defect

muscular ventricular septal defect

heart right ventricle hypoplasia

abnormal heart ventricle morphology

thin ventricular wall

abnormal interventricular groove morphology

abnormal pulmonary circulation

abnormal vasodilation

Availability

Mouse Genotype

Fgfr2^tm1Cxd/Fgfr2^tm1Cxd

Fgfr2^tm3Dsn/Fgfr2^tm3Dsn

Fgfr2^tm3.1Cxd/Fgfr2⁺

Fgfr2^tm1Ewj/Fgfr2⁺
Tg(EIIa-cre)C5379Lmgd/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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