Phenotypes Associated with This Genotype

Genotype
MGI:5906259

• Allelic Composition: Tg(Myh6-Snai1)B10Jcc/0
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

dilated heart left ventricle ( J:126850 )

• left ventricle circumference is increased at 3 weeks of age and this dilation becomes more prominent at both 3 months and 1 year of age

dilated cardiomyopathy ( J:126850 )

• the left ventricular volume is increased almost 2-fold and the slope of the end-systolic pressure-volume relation is reduced by more than 50% in isolated working hearts, characteristics of dilated cardiomyopathy

decreased cardiac muscle contractility ( J:126850 )

• contractility, as determined by the slope of the end-systolic pressure-volume relation, is reduced by more than 50% in isolated working hearts

• however, stroke volume is unaffected

abnormal heart echocardiography feature ( J:126850 )

• echocardiography shows that left ventricular diameter and volume are greater at 3 and 5 weeks of age, however fractional shortening is unchanged

abnormal impulse conducting system conduction ( J:126850 )

• ventricular conduction is slower, with the 10-90% sinus rhythm activation time more than doubled

prolonged PR interval ( J:126850 )

• PR interval is longer

• however, no arrhythmias are detected in mice

prolonged QRS complex duration ( J:126850 )

abnormal myocardial fiber physiology ( J:126850 )

• cardiomyocytes show a reduced overshoot of action potentials and 2.6-fold lower maximum rate-of-rise (dV/dt max) of action potentials

• however, myocytes show no differences in intercalated disc structure and no increases in cardiac fibrosis

abnormal myocardial fiber sodium currents ( J:126850 )

• 10-fold reduction in magnitude of the sodium current in cardiomyocytes

mortality/aging

mortality/aging ( J:126850 )

N • mice exhibit a normal lifespan

muscle

dilated cardiomyopathy ( J:126850 )

• the left ventricular volume is increased almost 2-fold and the slope of the end-systolic pressure-volume relation is reduced by more than 50% in isolated working hearts, characteristics of dilated cardiomyopathy

decreased cardiac muscle contractility ( J:126850 )

• contractility, as determined by the slope of the end-systolic pressure-volume relation, is reduced by more than 50% in isolated working hearts

• however, stroke volume is unaffected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:126850