Phenotypes Associated with This Genotype

Genotype
MGI:3579847

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

• ♀: 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