Mouse Genome Informatics
cn1
    Juptm1.1Shou/Juptm1.1Shou
Tg(Myh6-cre)2182Mds/0

involves: 129 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants suddenly die starting at 1 month of age, with an average life-span of 4.6 months

cardiovascular system
• mutants exhibit severe liver congestion
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area
• hearts show loss of desmosomes, however adherens junctions are normal
• myocardial calcification is seen in 2-month old ventricles
• heart is enlarged at 2 months of age
• hearts exhibit regional dysplasia of ventricular walls and ventricular aneurysms
• cardiac fibrosis is seen in atria and ventricles; fibrosis ranges from moderate to severe
• ECG shows compromised systolic function of the left ventricle
• fragmented diastolic potentials are seen in right ventricle
• hearts show reduced fractional shortening and ejection fraction
• at 1 and 2 months of age, mutants exhibit spontaneous non-sustained ventricular tachycardia
• sustained monomorphic ventricular tachycardias are induced in mutants by bust or programmed ventricular stimulation in 6 of 7 mutants but not in controls
• mutants exhibit intracardiac bipolar electrograms during ventricular tachycardia
• in Langendorff-perfused hearts, conduction velocity max and min are reduced
• at 1 month of age, mutants exhibit complex electrophysiological abnormalities, with low amplitude of the QRS complex, prolonged PR interval and spontaneous non-sustained ventricular tachycardia
• by 2 months of age, the amplitude of the P-wave is higher, amplitude of QRS complex is lower, the PR interval is prolonged, and frequent spontaneous ventricular ectopic beats are seen
• at 1 and 2 months of age, mutants exhibit prolonged PR interval
• by 2 months of age, the amplitude of the P-wave is higher
• ECG shows decreased QRS complex amplitude at P18, 1 month and 2 months of age
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis
• mutants show rapid and progressive development of cardiomyopathy; hearts appear normal at P12 but by P18, show signs of fibrosis and heart enlargement by 1 month

liver/biliary system
• mutants exhibit severe liver congestion

muscle
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area
• hearts show loss of desmosomes, however adherens junctions are normal
• hearts show reduced fractional shortening and ejection fraction
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis
• mutants show rapid and progressive development of cardiomyopathy; hearts appear normal at P12 but by P18, show signs of fibrosis and heart enlargement by 1 month
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis

cellular
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis