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Phenotypes Associated with This Genotype
Genotype
MGI:3579847
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 (13 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory