All Phenotypes Nkx2-5<tm4Rph> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nkx2-5^tm4Rph
targeted mutation 4, Richard P Harvey
MGI:3655239

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-5^tm4Rph/Nkx2-5^tm4Rph	either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J)	MGI:3655285
ht2	Nkx2-5^tm4Rph/Nkx2-5⁺	either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J)	MGI:3655274
ht3	Nkx2-5^tm4Rph/Nkx2-5⁺	either: (involves: 129S1/Sv * C57BL/6 * FVB/N) or (involves: 129S1/Sv * C57BL/6 * QS)	MGI:3655284
ht4	Nkx2-5^tm4Rph/Nkx2-5⁺	involves: 129S1/Sv	MGI:3579848
ht5	Nkx2-5^tm2(cre)Rph/Nkx2-5^tm4Rph	involves: 129S1/Sv	MGI:5426984
cx6	Nkx2-5^tm4Rph/Nkx2-5^tm4Rph Tbx20^tm1.1Rph/Tbx20^tm1.1Rph	involves: 129S1/Sv * C57BL/6	MGI:3579846
cx7	Nkx2-5^tm4Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺	involves: 129S1/Sv * C57BL/6	MGI:3579847

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5^tm4Rph
Genetic Background	either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

abnormal myocardium layer morphology ( J:81343 )

abnormal heart development ( J:81343 )

• exhibit abnormal heart morphology at E8.5 and E9.5 identical to that of homozygous Nkx2-5^tm1Wehi mice

abnormal heart ventricle morphology ( J:81343 )

muscle

abnormal myocardium layer morphology ( J:81343 )

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5⁺
Genetic Background	either: (involves: 129S1/Sv * 129T2/SvEms) or (involves: 129S1/Sv * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

abnormal heart septum morphology ( J:81343 )

• Background Sensitivity: septal dysmorphogenesis is most severe on the 129/Sv background, with 17% of hearts showing severe septal malformations bordering on atrial septal defect

atrial septal aneurysm ( J:81343 )

• exhibit an increase in the frequency of atrial septal aneurysms, indicated by a ruffling of the valve over the foramen ovale

• Background Sensitivity: 11% of heterozygotes on the mixed 129S1/Sv and C57BL/6J background and 34% on the 129/Sv background exhibit atrial septal aneurysms

atrial septal defect ( J:81343 )

• only rarely exhibit an atrial septal defect

patent cardiac foramen ovale ( J:81343 )

• exhibit an increase in the frequency of patent foramen ovale, indicated by blood passing easily beneath the flap valve

• Background Sensitivity: 78% of adults (vs 26% of wild-type) on the mixed 129S1/Sv and C57BL/6J background while 94% of adults (vs. 74% of wild-type) on the 129/Sv background show patent foramen ovale

• all neonates on the C57BL/6J background have a patent foramen ovale and 25% of those have a foramen ovale that is up to 2-fold larger than its maximum size in wild-type

bicuspid aortic valve ( J:81343 )

• 2% have bicuspid aortic valves

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5⁺
Genetic Background	either: (involves: 129S1/Sv * C57BL/6 * FVB/N) or (involves: 129S1/Sv * C57BL/6 * QS)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

abnormal interatrial septum morphology ( J:81343 )

• exhibit an increase in patent foramen ovale and atrial septal aneurysms, indicating septum abnormalities

atrial septal aneurysm ( J:81343 )

• slight increase in atrial septal aneurysims (3% vs. 0% in wild-type)

patent cardiac foramen ovale ( J:81343 )

• Background Sensitivity: increase in frequency of patent foramen ovale, from 6% to 36% on the mixed C57BL/6 and Swiss background and from 2.65% to 62% on the mixed C57BL/6 and FVB/N background

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

dilated heart left atrium ( J:98489 )

• left atrial dilation is seen

decreased heart left ventricle wall thickness ( J:98489 )

• left ventricular wall thickness was decreased by 12%

decreased ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 27% and fractional shortening was decreased by 13%

muscle

decreased ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 27% and fractional shortening was decreased by 13%

Allelic Composition	Nkx2-5^tm2(cre)Rph/Nkx2-5^tm4Rph
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

hematopoietic system

spleen hypoplasia ( J:184521 )

immune system

spleen hypoplasia ( J:184521 )

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5^tm4Rph Tbx20^tm1.1Rph/Tbx20^tm1.1Rph
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm4Rph mutation (1 available); any Nkx2-5 mutation (21 available)
Tbx20^tm1.1Rph mutation (1 available); any Tbx20 mutation (34 available)

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

cardiovascular system

abnormal heart tube morphology ( J:98489 )

• double homozygous mice show a combination of the heart abnormalities seen in single homozygotes

Allelic Composition	Nkx2-5^tm4Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:98489 )

• only 10% of mice at weaning were double heterozygotes suggesting partial embryonic or perinatal lethality

cardiovascular system

myocardial fiber disarray ( J:98489 )

• some adult mice with atrial septal defects also display myocyte disarray

dilated heart left atrium ( J:98489 )

• left atrial dilation is seen

atrial septal defect ( J:98489 )

• 16% of double heterozygotes had atrial septal defects

decreased heart left ventricle wall thickness ( J:98489 )

• left ventricular wall thickness was decreased by 40%

dilated heart left ventricle ( J:98489 )

• the left ventricle diastolic dimension is mildly but significantly increased

cardiac fibrosis ( J:98489 )

• some adult mice with atrial septal defects also display patches of fibrosis in the right ventricular myocardium

dilated cardiomyopathy ( J:98489 )

• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected

decreased ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 47% and fractional shortening was decreased by 24%

muscle

myocardial fiber disarray ( J:98489 )

• some adult mice with atrial septal defects also display myocyte disarray

dilated cardiomyopathy ( J:98489 )

• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected

decreased ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 47% and fractional shortening was decreased by 24%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrial heart septal defect 1		DOID:0110106	OMIM:108800	J:98489

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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