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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx20tm1.1Rph
targeted mutation 1.1, Richard P Harvey
MGI:3579836
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbx20tm1.1Rph/Tbx20tm1.1Rph involves: C57BL/6 MGI:3579844
ht2
Tbx20tm1.1Rph/Tbx20+ involves: C57BL/6 MGI:3579845
cx3
Nkx2-5tm4Rph/Nkx2-5tm4Rph
Tbx20tm1.1Rph/Tbx20tm1.1Rph
involves: 129S1/Sv * C57BL/6 MGI:3579846
cx4
Nkx2-5tm4Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+
involves: 129S1/Sv * C57BL/6 MGI:3579847
cx5
Nkx2-5tm3Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+
involves: C57BL/6 MGI:3716381


Genotype
MGI:3579844
hm1
Allelic
Composition
Tbx20tm1.1Rph/Tbx20tm1.1Rph
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx20tm1.1Rph mutation (1 available); any Tbx20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• looping is blocked
• 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
• 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
• elevated apoptosis is seen in the mesodermal layer at E9.5
• the yolk sac vascular plexus forms but is not remodeled into mature vessels

muscle
• 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
• delayed closure of the foregut pocket

cellular
• 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




Genotype
MGI:3579845
ht2
Allelic
Composition
Tbx20tm1.1Rph/Tbx20+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx20tm1.1Rph mutation (1 available); any Tbx20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• left atrial dilation is seen
• the left ventricle diastolic dimension is mildly but significantly increased
• left ventricular wall thickness was decreased by 35%
• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected
• left ventricular systolic dimension was increased 42% and fractional shortening was decreased by 21%

muscle
• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected
• left ventricular systolic dimension was increased 42% and fractional shortening was decreased by 21%




Genotype
MGI:3579846
cx3
Allelic
Composition
Nkx2-5tm4Rph/Nkx2-5tm4Rph
Tbx20tm1.1Rph/Tbx20tm1.1Rph
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm4Rph mutation (1 available); any Nkx2-5 mutation (7 available)
Tbx20tm1.1Rph mutation (1 available); any Tbx20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• double homozygous mice show a combination of the heart abnormalities seen in single homozygotes




Genotype
MGI:3579847
cx4
Allelic
Composition
Nkx2-5tm4Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm4Rph mutation (1 available); any Nkx2-5 mutation (7 available)
Tbx20tm1.1Rph mutation (1 available); any Tbx20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 10% of mice at weaning were double heterozygotes suggesting partial embryonic or perinatal lethality

cardiovascular system
• 16% of double heterozygotes had atrial septal defects
• left atrial dilation is seen
• some adult mice with atrial septal defects also display myocyte disarray
• the left ventricle diastolic dimension is mildly but significantly increased
• left ventricular wall thickness was decreased by 40%
• some adult mice with atrial septal defects also display patches of fibrosis in the right ventricular myocardium
• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected
• left ventricular systolic dimension was increased 47% and fractional shortening was decreased by 24%

muscle
• signs of dilated cardiomyopathy are seen but no compensatory myocardial hypertrophy or change in heart weight are detected
• left ventricular systolic dimension was increased 47% and fractional shortening was decreased by 24%

Mouse Models of Human Disease
OMIM ID Ref(s)
Atrial Septal Defect 1; ASD1 108800 J:98489




Genotype
MGI:3716381
cx5
Allelic
Composition
Nkx2-5tm3Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm3Rph mutation (0 available); any Nkx2-5 mutation (7 available)
Tbx20tm1.1Rph mutation (1 available); any Tbx20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory