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Symbol
Name
ID 		Nkx2-5
NK2 homeobox 5
MGI:97350
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Unroofed coronary sinus
Atrial septal defect
Patent foramen ovale
Primum atrial septal defect
Secundum atrial septal defect
Sinus venosus atrial septal defect
Abnormal cardiac septum morphology
Ventricular septal defect
Perimembranous ventricular septal defect
Atrioventricular canal defect
Subvalvular aortic stenosis
Left ventricular hypertrophy
Right ventricular dilatation
Mitral atresia
Tetralogy of Fallot
Bicuspid aortic valve
Aortic valve atresia
Cardiomegaly
Hypoplastic left heart
Hypoplastic aortic arch
Ascending aortic dissection
Aortic aneurysm
Aortic tortuosity
Calcification of the aorta
Coarctation of aorta
Pulmonary artery atresia
Pulmonary artery stenosis
Patent ductus arteriosus
Stroke
Systolic heart murmur
Aortic regurgitation
Aortic valve stenosis
Mitral regurgitation
Mitral stenosis
Pulmonic stenosis
Pulmonary arterial hypertension
Prolonged PR interval
Right axis deviation
Arrhythmia
Bradycardia
Palpitations
Atrial fibrillation
Atrial flutter
Bundle branch block
Right bundle branch block
Congestive heart failure
Disease(s) Associated with NKX2-5
aortic valve disease 2
atrial heart septal defect
atrial heart septal defect 7
congenital nongoitrous hypothyroidism 5
hypoplastic left heart syndrome
tetralogy of Fallot
ventricular septal defect

Mouse Phenotypes
cardiovascular system phenotype
abnormal dorsal aorta morphology
abnormal intersomitic artery morphology
pharyngeal arch artery hypoplasia
dilated pulmonary artery
abnormal vitelline vasculature morphology
absent vitelline blood vessels
abnormal impulse conducting system morphology
abnormal Purkinje fiber morphology
abnormal atrioventricular bundle morphology
abnormal left posterior bundle morphology
abnormal atrioventricular node morphology
absent atrioventricular node
atrioventricular node hypoplasia
abnormal myocardium layer morphology
abnormal myocardial fiber morphology
abnormal myocardial trabeculae morphology
abnormal trabecula carnea morphology
absent trabeculae carneae
absent myocardial trabeculae
disorganized myocardium
thin myocardium
abnormal cardiac outflow tract development
abnormal conotruncal ridge morphology
persistent truncus arteriosus
abnormal heart development
abnormal fetal atrioventricular canal morphology
absent atrioventricular cushions
abnormal heart looping
failure of heart looping
abnormal heart tube morphology
abnormal sinus venosus morphology
delayed heart development
abnormal heart morphology
double outlet right ventricle
abnormal heart apex morphology
abnormal tricuspid valve morphology
Ebstein's malformation of tricuspid valve
abnormal tricuspid valve cusp morphology
tricuspid valve atresia
abnormal heart atrium morphology
right atrial isomerism
dilated heart left atrium
dilated heart right atrium
abnormal interatrial septum morphology
atrial septal aneurysm
atrial septal defect
ostium secundum atrial septal defect
patent cardiac foramen ovale
abnormal heart septum morphology
atrioventricular septal defect
perimembraneous ventricular septal defect
abnormal interventricular septum muscular part morphology
muscular ventricular septal defect
common ventricle
ventricular septal defect
abnormal heart shape
abnormal heart ventricle shape
enlarged heart
cardiac hypertrophy
small heart
heart right ventricle hypoplasia
abnormal aortic valve commissure morphology
bicuspid aortic valve
thick aortic valve cusps
aortic valve stenosis
abnormal heart ventricle morphology
decreased heart left ventricle weight
decreased heart left ventricle wall thickness
abnormal heart right ventricle morphology
decreased heart right ventricle size
absent heart right ventricle
double chambered heart right ventricle
dilated heart right ventricle
pericardial edema
pericardial effusion
cardiac interstitial fibrosis
dilated cardiomyopathy
decreased cardiac stroke volume
poor circulation
decreased ventricle muscle contractility
abnormal heart left ventricle pressure
irregular heartbeat
abnormal impulse conducting system conduction
abnormal atrioventricular node conduction
abnormal PR interval
prolonged PR interval
atrioventricular block
abnormal heart electrocardiography waveform feature
prolonged PQ interval
abnormal QRS complex
prolonged QRS complex duration
abnormal ST segment
shortened ST segment
abnormal sinoatrial node conduction
sinoatrial block
heart block
abnormal myocardial fiber physiology
cardiomyopathy
Availability Mouse Genotype
Nkx2-5em1Dsr/Nkx2-5em1Dsr
Nkx2-5tm1.1Burg/Nkx2-5tm1.1Burg
Nkx2-5tm1Siz/Nkx2-5tm1Siz
Nkx2-5tm1Wehi/Nkx2-5tm1Wehi
Nkx2-5tm2.1Mwc/Nkx2-5tm2.1Mwc
Nkx2-5tm2Siz/Nkx2-5tm2Siz
Nkx2-5tm3.1Mwc/Nkx2-5tm3.1Mwc
Nkx2-5tm4Rph/Nkx2-5tm4Rph
Nkx2-5tm1.1Burg/Nkx2-5+
Nkx2-5tm1.1Hkas/Nkx2-5+ *! ! ! !
Nkx2-5tm1.1Krc/Nkx2-5+
Nkx2-5tm1Siz/Nkx2-5+
Nkx2-5tm1Wehi/Nkx2-5+
Nkx2-5tm2.1Mwc/Nkx2-5+
Nkx2-5tm2Siz/Nkx2-5+
Nkx2-5tm3.1Mwc/Nkx2-5+
Nkx2-5tm4Rph/Nkx2-5+ ! ! !
Myl2tm1(cre)Krc/Myl2+
Nkx2-5tm1Krc/Nkx2-5tm1Krc  (conditional)		 *
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Isl1tm1(cre)Tmj/Isl1+  (conditional)
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Tg(Mef2c-cre)#Blk/0  (conditional)
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Isl1tm1(cre)Sev/Isl1+  (conditional)
Foxa2tm2.1(cre/Esr1*)Moon/Foxa2+
Nkx2-5tm1Krc/Nkx2-5tm1Krc  (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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory