All Phenotypes Tbx20<tm1.1Rph> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tbx20^tm1.1Rph
targeted mutation 1.1, Richard P Harvey
MGI:3579836

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx20^tm1.1Rph/Tbx20^tm1.1Rph	involves: C57BL/6	MGI:3579844
ht2	Tbx20^tm1.1Rph/Tbx20⁺	involves: C57BL/6	MGI:3579845
cx3	Nkx2-5^tm4Rph/Nkx2-5^tm4Rph Tbx20^tm1.1Rph/Tbx20^tm1.1Rph	involves: 129S1/Sv * C57BL/6	MGI:3579846
cx4	Nkx2-5^tm4Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺	involves: 129S1/Sv * C57BL/6	MGI:3579847
cx5	Nkx2-5^tm3Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺	involves: C57BL/6	MGI:3716381

Allelic Composition	Tbx20^tm1.1Rph/Tbx20^tm1.1Rph
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx20^tm1.1Rph mutation (1 available); any Tbx20 mutation (36 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:98489 )

• death at E10.5

cardiovascular system

failure of heart looping ( J:98489 )

• looping is blocked

abnormal heart tube morphology ( J:98489 )

• at E8.5 and E9.5 severely decreased expression of chamber specific markers indicates a lack of chamber differentiation

• at E9.5 two small chamber-like swellings separated by a circumferential sulcus are seen which lack trabeculae and endocardial cushions and the heart is small, forward looped, and hourglass shaped

abnormal fetal cardiomyocyte proliferation ( J:98489 )

• at E9.0 the mitotic index in the outflow and inflow ventricle-like chambers are reduced 6- to 7-fold and 2.2 to 3.3-fold, respectively

embryo

abnormal visceral yolk sac mesenchyme morphology ( J:98489 )

• elevated apoptosis is seen in the mesodermal layer at E9.5

abnormal vitelline vascular remodeling ( J:98489 )

• the yolk sac vascular plexus forms but is not remodeled into mature vessels

muscle

abnormal fetal cardiomyocyte proliferation ( J:98489 )

• at E9.0 the mitotic index in the outflow and inflow ventricle-like chambers are reduced 6- to 7-fold and 2.2 to 3.3-fold, respectively

growth/size/body

abnormal body wall morphology ( J:98489 )

• delayed closure of the foregut pocket

cellular

abnormal fetal cardiomyocyte proliferation ( J:98489 )

• at E9.0 the mitotic index in the outflow and inflow ventricle-like chambers are reduced 6- to 7-fold and 2.2 to 3.3-fold, respectively

Allelic Composition	Tbx20^tm1.1Rph/Tbx20⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx20^tm1.1Rph mutation (1 available); any Tbx20 mutation (36 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 35%

dilated heart left ventricle ( J:98489 )

• the left ventricle diastolic dimension is mildly but significantly increased

dilated cardiomyopathy ( J:98489 )

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

decreased heart left ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 42% and fractional shortening was decreased by 21%

muscle

dilated cardiomyopathy ( J:98489 )

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

decreased heart left ventricle muscle contractility ( J:98489 )

• left ventricular systolic dimension was increased 42% and fractional shortening was decreased by 21%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:98489

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 (36 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 heart left 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 heart left 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

Allelic Composition	Nkx2-5^tm3Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm3Rph mutation (0 available); any Nkx2-5 mutation (21 available)
Tbx20^tm1.1Rph mutation (1 available); any Tbx20 mutation (36 available)

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

cardiovascular system

dilated heart right ventricle ( J:98489 )

cardiac fibrosis ( 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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