Mouse Genome Informatics
hm1
    Tbx20tm1.1Rph/Tbx20tm1.1Rph
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

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

embryogenesis
• 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


Mouse Genome Informatics
ht2
    Tbx20tm1.1Rph/Tbx20+
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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%


Mouse Genome Informatics
cx3
    Nkx2-5tm4Rph/Nkx2-5tm4Rph
Tbx20tm1.1Rph/Tbx20tm1.1Rph

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• double homozygous mice show a combination of the heart abnormalities seen in single homozygotes


Mouse Genome Informatics
cx4
    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%

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


Mouse Genome Informatics
cx5
    Nkx2-5tm3Rph/Nkx2-5+
Tbx20tm1.1Rph/Tbx20+

involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system