Mouse Genome Informatics
cx
    Nkx2-5tm4Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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%

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

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