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NK2 homeobox 5
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
Prolonged PR interval
Aortic valve stenosis
Mitral stenosis
Pulmonic stenosis
Atrial fibrillation
Bundle branch block
Atrial septal defect
Secundum atrial septal defect
Abnormal cardiac septum morphology
Ventricular septal defect
Perimembranous ventricular septal defect
Complete atrioventricular canal defect
Subvalvular aortic stenosis
Left ventricular hypertrophy
Mitral atresia
Double outlet right ventricle
Tetralogy of Fallot
Transposition of the great arteries
Aortic valve atresia
Hypoplastic left heart
Hypoplastic aortic arch
Coarctation of aorta
Pulmonary artery atresia
Pulmonary artery stenosis
Patent ductus arteriosus
Truncus arteriosus
Disease(s) Associated with NKX2-5
atrial heart septal defect 7
double outlet right ventricle
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
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 arteriosis
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
dilated heart right atrium
abnormal interatrial septum morphology
atrial septal aneurysm
atrial septal defect
ostium secundum atrial septal defect
patent cardiac foramen ovale
dilated heart atrium
right atrial isomerism
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
decreased heart left ventricle weight
enlarged heart
cardiac hypertrophy
small heart
abnormal aortic valve morphology
bicuspid aortic valve
thick aortic valve cusps
aortic valve stenosis
abnormal heart ventricle morphology
abnormal heart right ventricle morphology
decreased heart right ventricle size
heart right ventricle hypoplasia
dilated heart right ventricle
absent heart right ventricle
double chambered heart right ventricle
thin ventricular wall
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
Availability Mouse Genotype
Nkx2-5tm1.1Hkas/Nkx2-5+ *! ! ! !
Nkx2-5tm4Rph/Nkx2-5+ ! ! !
Nkx2-5tm1Krc/Nkx2-5tm1Krc  (conditional)
Isl1tm1(cre)Tmj/Isl1+  (conditional)
Tg(Mef2c-cre)#Blk/0  (conditional)
Isl1tm1(cre)Sev/Isl1+  (conditional)
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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last database update
MGI 6.14
The Jackson Laboratory