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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Nkx2-5
NK2 homeobox 5
MGI:97350
133 phenotypes from 14 alleles in 19 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Foxa2tm2.1(cre/Esr1*)Moon/Foxa2+
Nkx2-5tm1Krc/Nkx2-5tm1Krc
involves: 129 * C57BL/6 		normal cardiovascular system phenotype J:214093
Myl2tm1(cre)Krc/Myl2+
Nkx2-5tm1Krc/Nkx2-5tm1Krc
either: (involves: 129/Sv * Black Swiss) or (involves: 129/Sv * C57BL/6) 		abnormal atrioventricular bundle morphology J:89404
abnormal impulse conducting system morphology J:89404
abnormal myocardial fiber morphology J:89404
atrioventricular block J:89404
atrioventricular node hypoplasia J:89404
cardiac hypertrophy J:89404
cardiac interstitial fibrosis J:89404
normal cardiovascular system phenotype J:89404
dilated cardiomyopathy J:89404
hydrops fetalis J:89404
myocardial ventricular hypertrabeculation J:89404
perinatal lethality, incomplete penetrance J:89404
Nkx2-5em1Dsr/Nkx2-5em1Dsr
involves: C57BL/6J 		abnormal heart ventricle morphology J:277399
abnormal trabecula carnea morphology J:277399
thin myocardium J:277399
Nkx2-5tm1.1Burg/Nkx2-5+
involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ 		abnormal heart ventricle morphology J:251389
atrial septal defect J:251389
atrioventricular block J:251389
neonatal lethality, incomplete penetrance J:251389
ostium secundum atrial septal defect J:251389
postnatal lethality, incomplete penetrance J:251389
prolonged PR interval J:251389
ventricular septal defect J:251389
Nkx2-5tm1.1Burg/Nkx2-5tm1.1Burg
involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ 		abnormal trabecula carnea morphology J:251389
absent atrioventricular cushions J:251389
decreased embryo size J:251389
delayed heart development J:251389
embryonic growth retardation J:251389
embryonic lethality during organogenesis, complete penetrance J:251389
pericardial effusion J:251389
small heart J:251389
thin myocardium J:251389
Nkx2-5tm1.1Gum/Nkx2-5tm1.1Gum
Tg(CAG-cre/Esr1*)5Amc/0
involves: C57BL/6J 		abnormal pyloric sphincter morphology J:228275
abnormal stomach smooth muscle circular layer morphology J:228275
abnormal stomach smooth muscle outer longitudinal layer morphology J:228275
decreased cell proliferation J:228275
increased apoptosis J:228275
Nkx2-5tm1.1Hkas/Nkx2-5+
129S2.Cg-Nkx2-5tm1.1Hkas 		abnormal atrioventricular node conduction J:273097
abnormal atrioventricular node morphology J:273097
abnormal heart morphology J:273096
abnormal heart ventricle morphology J:273096
abnormal impulse conducting system conduction J:273097
abnormal interatrial septum morphology J:273096
abnormal interventricular septum muscular part morphology J:273096
abnormal left posterior bundle morphology J:273097
abnormal tricuspid valve morphology J:273096
atrioventricular block J:273097
atrioventricular septal defect J:273096
cardiomyopathy J:273096
cyanosis J:273096
decreased acetylcholinesterase activity J:273097
double chambered heart right ventricle J:273096
double outlet right ventricle J:273096
Ebstein's malformation of tricuspid valve J:273096
enlarged heart J:273096
muscular ventricular septal defect J:273096
perimembraneous ventricular septal defect J:273096
perinatal lethality, incomplete penetrance J:273096
prolonged PR interval J:273097
prolonged QRS complex duration J:273097
right atrial isomerism J:273096
tricuspid valve atresia J:273096
Nkx2-5tm1.1Hkas/Nkx2-5+
(129S2.Cg-Nkx2-5tm1.1Hkas x C57BL/6)F1 		abnormal heart ventricle morphology J:273096
abnormal tricuspid valve cusp morphology J:273096
normal cardiovascular system phenotype J:273096
muscular ventricular septal defect J:273096
perimembraneous ventricular septal defect J:273096
Nkx2-5tm1.1Hkas/Nkx2-5tm1.1Hkas
129S2.Cg-Nkx2-5tm1.1Hkas 		embryonic growth retardation J:273096
embryonic lethality, complete penetrance J:273096
Nkx2-5tm1.1Krc/Nkx2-5+
129S2.Cg(FVB)-Nkx2-5tm1.1Krc 		abnormal heart ventricle morphology J:273096
abnormal tricuspid valve cusp morphology J:273096
abnormal tricuspid valve morphology J:273096
normal mortality/aging J:273096
muscular ventricular septal defect J:273096
perimembraneous ventricular septal defect J:273096
Nkx2-5tm1.1Pash/Nkx2-5tm1.1Pash
B6.129-Nkx2-5tm1.1Pash 		no abnormal phenotype detected J:101977
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Isl1tm1(cre)Sev/Isl1+
involves: 129 * C57BL/6 		abnormal cardiac outflow tract development J:214093
absent heart right ventricle J:214093
embryonic lethality during organogenesis, complete penetrance J:214093
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Isl1tm1(cre)Tmj/Isl1+
involves: 129X1/SvJ * C57BL/6 		abnormal cardiac outflow tract development J:214093
abnormal conotruncal ridge morphology J:214093
abnormal heart right ventricle morphology J:214093
abnormal myocardial trabeculae morphology J:214093
cyanosis J:214093
decreased heart right ventricle size J:214093
double outlet right ventricle J:214093
heart right ventricle hypoplasia J:214093
perinatal lethality J:214093
persistent truncus arteriosus J:214093
Nkx2-5tm1Krc/Nkx2-5tm1Krc
Tg(Mef2c-cre)#Blk/0
involves: 129 * C57BL/6 		abnormal cardiac outflow tract development J:214093
absent heart right ventricle J:214093
embryonic lethality during organogenesis, complete penetrance J:214093
Nkx2-5tm1Siz/Nkx2-5+
involves: 129S4/SvJaeSor 		abnormal impulse conducting system conduction J:89216
abnormal Purkinje fiber morphology J:89216
atrioventricular block J:89216
decreased heart ventricle muscle contractility J:174208
prolonged PR interval J:89216
prolonged QRS complex duration J:89216, J:174208
Nkx2-5tm1Siz/Nkx2-5tm1Siz
involves: 129S4/SvJaeSor * C57BL/6J 		abnormal cardiac outflow tract development J:52597
abnormal dorsal aorta morphology J:52597
abnormal embryonic hematopoiesis J:52597
abnormal embryonic tissue morphology J:52597
abnormal extraembryonic tissue morphology J:52597
abnormal fetal atrioventricular canal morphology J:52597
abnormal heart development J:52597
abnormal intersomitic artery morphology J:52597
abnormal visceral yolk sac morphology J:52597
abnormal vitelline vasculature morphology J:52597
absent atrioventricular cushions J:52597
absent myocardial trabeculae J:52597
absent vitelline blood vessels J:52597
anemia J:52597
common ventricle J:52597
decreased cell proliferation J:69976
embryonic growth retardation J:52597
embryonic lethality during organogenesis, complete penetrance J:52597
excessive folding of visceral yolk sac J:52597
pale yolk sac J:52597
pericardial effusion J:52597
pharyngeal arch artery hypoplasia J:52597
pharynx hypoplasia J:69976
Nkx2-5tm1Wehi/Nkx2-5+
involves: 129P2/OlaHsd 		spleen hypoplasia J:184521
Nkx2-5tm1Wehi/Nkx2-5+
involves: 129P2/OlaHsd * C57BL/6J * C57BL/10J 		abnormal aortic valve commissure morphology J:81343
abnormal interatrial septum morphology J:81343
aortic valve stenosis J:81343
atrial septal aneurysm J:81343
atrial septal defect J:81343
bicuspid aortic valve J:81343
patent cardiac foramen ovale J:81343
prolonged PR interval J:81343
thick aortic valve cusps J:81343
Nkx2-5tm1Wehi/Nkx2-5tm1Wehi
involves: 129P2/OlaHsd * C57BL/6J * C57BL/10 		abnormal cardiac outflow tract development J:27443
abnormal fetal atrioventricular canal morphology J:27443
abnormal heart shape J:27443
abnormal heart tube morphology J:27443
abnormal heart ventricle shape J:27443
abnormal myocardium layer morphology J:27443
abnormal myogenesis J:27443
abnormal sinus venosus morphology J:27443
abnormal somite development J:27443
absent atrioventricular cushions J:27443
absent trabeculae carneae J:27443
decreased embryo size J:27443
disorganized myocardium J:27443
edema J:27443
embryonic growth retardation J:27443
embryonic lethality during organogenesis, complete penetrance J:27443
failure of heart looping J:27443
incomplete somite formation J:27443
pericardial edema J:27443
poor circulation J:27443
Nkx2-5tm2(cre)Rph/Nkx2-5tm4Rph
involves: 129S1/Sv 		spleen hypoplasia J:184521
Nkx2-5tm2.1Mwc/Nkx2-5+
B6J.Cg-Nkx2-5tm2.1Mwc/Mwc 		abnormal heart apex morphology J:239808
abnormal heart electrocardiography waveform feature J:239808
abnormal heart left ventricle pressure J:239808
abnormal heart morphology J:239808
abnormal heart right ventricle morphology J:239808
abnormal PR interval J:239808
abnormal QRS complex J:239808
abnormal sinoatrial node conduction J:239808
abnormal ST segment J:239808
atrioventricular node hypoplasia J:239808
decreased cardiac stroke volume J:239808
decreased heart left ventricle muscle contractility J:239808
decreased heart left ventricle weight J:239808
decreased heart right ventricle muscle contractility J:239808
decreased heart ventricle muscle contractility J:239808
dilated heart right atrium J:239808
dilated heart right ventricle J:239808
irregular heartbeat J:239808
patent cardiac foramen ovale J:239808
prolonged PQ interval J:239808
prolonged QRS complex duration J:239808
shortened ST segment J:239808
sinoatrial block J:239808
Nkx2-5tm2.1Mwc/Nkx2-5tm2.1Mwc
B6J.Cg-Nkx2-5tm2.1Mwc/Mwc 		abnormal heart development J:239808
abnormal heart looping J:239808
embryonic lethality during organogenesis, complete penetrance J:239808
failure of heart looping J:239808
Nkx2-5tm2Siz/Nkx2-5+
involves: 129S4/SvJaeSor 		abnormal atrioventricular node morphology J:89216
abnormal heart development J:89216
abnormal impulse conducting system morphology J:89216
abnormal Purkinje fiber morphology J:89216
heart block J:89216
Nkx2-5tm2Siz/Nkx2-5tm2Siz
involves: 129S4/SvJaeSor 		abnormal cardiac outflow tract development J:89216
abnormal fetal atrioventricular canal morphology J:89216
abnormal heart atrium morphology J:89216
abnormal heart development J:89216
abnormal heart looping J:89216
abnormal heart ventricle shape J:89216
absent atrioventricular node J:89216
embryonic lethality during organogenesis, complete penetrance J:89216
Nkx2-5tm3.1Mwc/Nkx2-5+
B6J.Cg-Nkx2-5tm3.1Mwc/Mwc 		abnormal atrioventricular node morphology J:239808
abnormal heart apex morphology J:239808
abnormal heart electrocardiography waveform feature J:239808
abnormal heart morphology J:239808
abnormal heart right ventricle morphology J:239808
abnormal myocardial fiber physiology J:239808
abnormal sinoatrial node conduction J:239808
atrial septal defect J:239808
decreased heart right ventricle muscle contractility J:239808
dilated heart right atrium J:239808
dilated heart right ventricle J:239808
dilated pulmonary artery J:239808
patent cardiac foramen ovale J:239808
prolonged PQ interval J:239808
prolonged QRS complex duration J:239808
shortened ST segment J:239808
sinoatrial block J:239808
Nkx2-5tm3.1Mwc/Nkx2-5tm3.1Mwc
B6J.Cg-Nkx2-5tm3.1Mwc/Mwc 		abnormal heart development J:239808
abnormal heart looping J:239808
embryonic lethality during organogenesis, complete penetrance J:239808
failure of heart looping J:239808
Nkx2-5tm4Rph/Nkx2-5+
either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J) 		abnormal heart septum morphology J:81343
atrial septal aneurysm J:81343
atrial septal defect J:81343
bicuspid aortic valve J:81343
patent cardiac foramen ovale J:81343
Nkx2-5tm4Rph/Nkx2-5+
either: (involves: 129S1/Sv * C57BL/6 * FVB/N) or (involves: 129S1/Sv * C57BL/6 * QS) 		abnormal interatrial septum morphology J:81343
atrial septal aneurysm J:81343
patent cardiac foramen ovale J:81343
Nkx2-5tm4Rph/Nkx2-5+
involves: 129S1/Sv 		decreased heart left ventricle muscle contractility J:98489
decreased heart left ventricle wall thickness J:98489
dilated heart left atrium J:98489
Nkx2-5tm4Rph/Nkx2-5tm4Rph
either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J) 		abnormal heart development J:81343
abnormal heart ventricle morphology J:81343
abnormal myocardium layer morphology J:81343
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
12/10/2024
MGI 6.24 		The Jackson Laboratory