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Phenotypes Associated with This Genotype
Genotype
MGI:5296512
Allelic
Composition
Juptm1.1Shou/Juptm1.1Shou
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Juptm1.1Shou mutation (0 available); any Jup mutation (128 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants suddenly die starting at 1 month of age, with an average life-span of 4.6 months (J:177567)
• mutants suddenly die starting at 1 month of age, with an average life-span of 4.6 months (J:177567)

cardiovascular system
• mutants exhibit severe liver congestion (J:177567)
• mutants exhibit severe liver congestion (J:177567)
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area (J:177567)
• hearts show loss of desmosomes, however adherens junctions are normal (J:177567)
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area (J:177567)
• hearts show loss of desmosomes, however adherens junctions are normal (J:177567)
• myocardial calcification is seen in 2-month old ventricles (J:177567)
• myocardial calcification is seen in 2-month old ventricles (J:177567)
• heart is enlarged at 2 months of age (J:177567)
• heart is enlarged at 2 months of age (J:177567)
• hearts exhibit regional dysplasia of ventricular walls and ventricular aneurysms (J:177567)
• hearts exhibit regional dysplasia of ventricular walls and ventricular aneurysms (J:177567)
• cardiac fibrosis is seen in atria and ventricles; fibrosis ranges from moderate to severe (J:177567)
• cardiac fibrosis is seen in atria and ventricles; fibrosis ranges from moderate to severe (J:177567)
• ECG shows compromised systolic function of the left ventricle (J:177567)
• fragmented diastolic potentials are seen in right ventricle (J:177567)
• ECG shows compromised systolic function of the left ventricle (J:177567)
• fragmented diastolic potentials are seen in right ventricle (J:177567)
• hearts show reduced fractional shortening and ejection fraction (J:177567)
• hearts show reduced fractional shortening and ejection fraction (J:177567)
• at 1 and 2 months of age, mutants exhibit spontaneous non-sustained ventricular tachycardia (J:177567)
• sustained monomorphic ventricular tachycardias are induced in mutants by bust or programmed ventricular stimulation in 6 of 7 mutants but not in controls (J:177567)
• mutants exhibit intracardiac bipolar electrograms during ventricular tachycardia (J:177567)
• at 1 and 2 months of age, mutants exhibit spontaneous non-sustained ventricular tachycardia (J:177567)
• sustained monomorphic ventricular tachycardias are induced in mutants by bust or programmed ventricular stimulation in 6 of 7 mutants but not in controls (J:177567)
• mutants exhibit intracardiac bipolar electrograms during ventricular tachycardia (J:177567)
• in Langendorff-perfused hearts, conduction velocity max and min are reduced (J:177567)
• in Langendorff-perfused hearts, conduction velocity max and min are reduced (J:177567)
• 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 (J:177567)
• 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 (J:177567)
• 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 (J:177567)
• 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 (J:177567)
• at 1 and 2 months of age, mutants exhibit prolonged PR interval (J:177567)
• at 1 and 2 months of age, mutants exhibit prolonged PR interval (J:177567)
• by 2 months of age, the amplitude of the P-wave is higher (J:177567)
• by 2 months of age, the amplitude of the P-wave is higher (J:177567)
• ECG shows decreased QRS complex amplitude at P18, 1 month and 2 months of age (J:177567)
• ECG shows decreased QRS complex amplitude at P18, 1 month and 2 months of age (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 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 (J:177567)
• 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 (J:177567)

liver/biliary system
• mutants exhibit severe liver congestion (J:177567)
• mutants exhibit severe liver congestion (J:177567)

muscle
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area (J:177567)
• hearts show loss of desmosomes, however adherens junctions are normal (J:177567)
• cardiomyocytes are hypertrophic, showing an increase in cross-sectional area (J:177567)
• hearts show loss of desmosomes, however adherens junctions are normal (J:177567)
• hearts show reduced fractional shortening and ejection fraction (J:177567)
• hearts show reduced fractional shortening and ejection fraction (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 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 (J:177567)
• 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 (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)

cellular
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)
• 18 day old mutants exhibit extensive cardiomyocyte death, including apoptisis and necrosis (J:177567)


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory