All Phenotypes Nkx2-5<tm1Krc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nkx2-5^tm1Krc
targeted mutation 1, Kenneth R Chien
MGI:3042511

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myl2^tm1(cre)Krc/Myl2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc	either: (involves: 129/Sv * Black Swiss) or (involves: 129/Sv * C57BL/6)	MGI:3043007
cn2	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Tg(Mef2c-cre)#Blk/0	involves: 129 * C57BL/6	MGI:5643690
cn3	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Isl1^tm1(cre)Sev/Isl1⁺	involves: 129 * C57BL/6	MGI:5643691
cn4	Foxa2^{tm2.1(cre/Esr1*)Moon}/Foxa2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc	involves: 129 * C57BL/6	MGI:5643695
cn5	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Isl1^tm1(cre)Tmj/Isl1⁺	involves: 129X1/SvJ * C57BL/6	MGI:5643689

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc
Genetic Background	either: (involves: 129/Sv * Black Swiss) or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:89404 )

• incomplete penetrance; mice were born at 78% of the expected rate

• pernatal lethality was reported to be more penetrant with contributions from the C57BL/6 genetic background

cardiovascular system

cardiovascular system phenotype ( J:89404 )

N	• no atrial or ventricular septal defects

abnormal impulse conducting system morphology ( J:89404 )

abnormal atrioventricular bundle morphology ( J:89404 )

• bundle of His was hypoplastic at birth

atrioventricular node hypoplasia ( J:89404 )

• atrioventricular (AV) node was hypoplastic at birth

abnormal myocardial fiber morphology ( J:89404 )

• loss of integrity and sarcomeric structure in conduction system cardiomyocytes

• surrounding, non-conducting, cardiomyoctes were unaffected

myocardial ventricular hypertrabeculation ( J:89404 )

• hypertrabeculation; trabecular muscle overgrowth, filling the left ventricle

cardiac hypertrophy ( J:89404 )

cardiac interstitial fibrosis ( J:89404 )

dilated cardiomyopathy ( J:89404 )

atrioventricular block ( J:89404 )

• progressive AV block associated with cardiomyocyte dropout and fibrosis in the central conduction system

homeostasis/metabolism

hydrops fetalis ( J:89404 )

• fetuses that died prior to birth were edematous, suggesting circulatory failure

muscle

abnormal impulse conducting system morphology ( J:89404 )

abnormal atrioventricular bundle morphology ( J:89404 )

• bundle of His was hypoplastic at birth

atrioventricular node hypoplasia ( J:89404 )

• atrioventricular (AV) node was hypoplastic at birth

abnormal myocardial fiber morphology ( J:89404 )

• loss of integrity and sarcomeric structure in conduction system cardiomyocytes

• surrounding, non-conducting, cardiomyoctes were unaffected

myocardial ventricular hypertrabeculation ( J:89404 )

• hypertrabeculation; trabecular muscle overgrowth, filling the left ventricle

dilated cardiomyopathy ( J:89404 )

growth/size/body

cardiac hypertrophy ( J:89404 )

cellular

cardiac interstitial fibrosis ( J:89404 )

Allelic Composition	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Tg(Mef2c-cre)#Blk/0
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)
Tg(Mef2c-cre)#Blk mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:214093 )

• early embryonic lethality at E10-E10.5

cardiovascular system

abnormal cardiac outflow tract development ( J:214093 )

• foreshortened outflow tract

absent heart right ventricle ( J:214093 )

• loss of right ventricle

Allelic Composition	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Isl1^tm1(cre)Sev/Isl1⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:214093 )

• early embryonic lethality at E10-E10.5

cardiovascular system

abnormal cardiac outflow tract development ( J:214093 )

• foreshortened outflow tract

• treatment of pregnant females from E8 to E10 with LiCl results in septation of the outflow tract in embryos, although it fails to correct the alignment defects of the outflow tract

absent heart right ventricle ( J:214093 )

• loss of right ventricle

• treatment of pregnant females from E8 to E10 with LiCl results in a larger right ventricle

Allelic Composition	Foxa2^{tm2.1(cre/Esr1*)Moon}/Foxa2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxa2^{tm2.1(cre/Esr1*)Moon} mutation (1 available); any Foxa2 mutation (28 available)
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:214093 )

N	• pups from pregnant females treated with tamoxifen at E6.5-7 do not exhibit outflow tract septation or alignment defects

Allelic Composition	Nkx2-5^tm1Krc/Nkx2-5^tm1Krc Isl1^tm1(cre)Tmj/Isl1⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Tmj mutation (0 available); any Isl1 mutation (36 available)
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality ( J:214093 )

• cyanosis and death within a few hours of birth; perinatal lethality is due to outflow tract septation defects

cardiovascular system

abnormal myocardial trabeculae morphology ( J:214093 )

• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos

abnormal cardiac outflow tract development ( J:214093 )

• foreshortened outflow tract

• complete penetrance of outflow tract defects

• the proximal outflow tract shows defective endocardial networks, while the neural crest-derived distal outflow tract endocardial cushions appear normal

abnormal conotruncal ridge morphology ( J:214093 )

• smaller developing endocardial cushions in the proximal outflow tract

• the outflow tract cushions show a reduction in the relative proliferation rate in embryos

persistent truncus arteriosus ( J:214093 )

• 92% of mutants exhibit a single outflow tract arising from the right ventricle

double outlet right ventricle ( J:214093 )

• only a small number of embryos show double outlet right ventricle

abnormal heart right ventricle morphology ( J:214093 )

• reduction of trabecular networks in the right ventricle, whereas the left ventricle is normal

decreased heart right ventricle size ( J:214093 )

heart right ventricle hypoplasia ( J:214093 )

• decrease in the relative proliferative rate of the second heart field is evident as early as E10, resulting in hypoplastic right ventricle at E12.5

homeostasis/metabolism

cyanosis ( J:214093 )

muscle

abnormal myocardial trabeculae morphology ( J:214093 )

• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos

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