Phenotypes Associated with This Genotype

Genotype
MGI:5904950

• Allelic Composition: Tg(Myh6-Rab1a)medGwd/0
• Genetic Background: involves: FVB/N

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

cardiovascular system

abnormal myocardial fiber morphology ( J:134581 )

• Golgi stack and surrounding transitional vesicles are enlarged and increased in number in 8 week old left ventricular cardiomyocytes

• degenerative myelin figures are seen in both ventricular and atrial cardiomyocytes at 8 weeks of age

• atrial myocytes contain overabundant atrial natriuretic peptide granules

• cardiomyocyte volume is increased by 100% and 13% in cells from left and right ventricles, respectively

increased myocardial fiber size ( J:134581 )

• myocyte size, measured as cell capacitance, is increased indicating hypertrophy

cardiac hypertrophy ( J:134581 )

• cardiac mass is increased already at 6 weeks of age and myocyte size is increased

• expression of hypertrophy-associated genes is increased at 6 weeks of age

dilated cardiomyopathy ( J:134581 )

• mice show progressive development of dilated cardiomyopathy after 12-24 weeks of age

decreased ventricle muscle contractility ( J:134581 )

• echocardiographic left ventricular fractional shortening progressively deteriorates overtime after 12-24 weeks of age

• ventricular myocyte contractile function, measured as either the extent or maximal rate of unloaded shortening is depressed

abnormal myocardial fiber calcium currents ( J:134581 )

• L-type calcium channel current is depressed in myocytes

decreased calcium uptake by cardiac muscle ( J:134581 )

• amplitude of calcium transient is normal in ventricular myocytes, but calcium uptake is depressed

muscle

abnormal myocardial fiber morphology ( J:134581 )

• Golgi stack and surrounding transitional vesicles are enlarged and increased in number in 8 week old left ventricular cardiomyocytes

• degenerative myelin figures are seen in both ventricular and atrial cardiomyocytes at 8 weeks of age

• atrial myocytes contain overabundant atrial natriuretic peptide granules

• cardiomyocyte volume is increased by 100% and 13% in cells from left and right ventricles, respectively

increased myocardial fiber size ( J:134581 )

• myocyte size, measured as cell capacitance, is increased indicating hypertrophy

dilated cardiomyopathy ( J:134581 )

• mice show progressive development of dilated cardiomyopathy after 12-24 weeks of age

decreased ventricle muscle contractility ( J:134581 )

• echocardiographic left ventricular fractional shortening progressively deteriorates overtime after 12-24 weeks of age

• ventricular myocyte contractile function, measured as either the extent or maximal rate of unloaded shortening is depressed

growth/size/body

cardiac hypertrophy ( J:134581 )

• cardiac mass is increased already at 6 weeks of age and myocyte size is increased

• expression of hypertrophy-associated genes is increased at 6 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:134581