Phenotypes Associated with This Genotype

Genotype
MGI:5906030

• Allelic Composition: Tg(Myh6-Tpm1*D175N)#Dfw/0
• Genetic Background: Not Specified

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

cardiovascular system

increased myocardial fiber size ( J:57365 )

♂ • occasional mild myocyte hypertrophy in 20 week old males

♂ • cardiomyocytes exhibit nuclear gigantism, increased interstitial cellularity and fibrosis, indicators of myocyte hypertrophy

disorganized myocardium ( J:57365 )

• mild ventricular myocyte disorganization

• mice exposed to swimming as exercise for 8 weeks show a slight increase in the incidence of myocyte disorganization but no change in the degree of hypertrophy

myocardium hypertrophy ( J:57365 )

♂ • only about 5% of the total myocardium is affected by hypertrophy

abnormal interventricular septum morphology ( J:57365 )

♂ • disorganization of left ventricle and apical right ventricular septal myocytes in 20 week old males

cardiac fibrosis ( J:57365 )

• variable occurrence of myocyte fibrosis

• mice exposed to swimming as exercise for 8 weeks show a slight increase in the incidence of fibrosis

decreased cardiac muscle contractility ( J:57365 )

• maximum rate of contraction (+dP/dt) is reduced and time to peak pressure is prolonged indicating diminished rate of contraction

• reduced contractile performance is maintained during maximal stimulation with isoproterenol, a beta-adrenergic agonist

decreased cardiac muscle relaxation ( J:57365 )

• maximum rate of relaxation (-dP/dt) is decreased and the time to one half relaxation is increased indicating diminished rates of relaxation

• reduced relaxation performance is maintained during maximal stimulation with isoproterenol, a beta-adrenergic agonist

abnormal heart ventricle pressure ( J:57365 )

• systolic and diastolic intraventricular pressures are decreased and end diastolic intraventricular pressure is increased

abnormal myocardial fiber physiology ( J:57365 )

• force developed by cardiac myofilaments is more sensitive to calcium than control myofilaments

• myofilaments also show increased calcium sensitivity under phosphorylating conditions that occur during beta-adrenergic stimulation

homeostasis/metabolism

abnormal atrial thrombosis ( J:57365 )

♂ • thrombi formation in the left atrium in 20 week old males

♂ • however, no increase in cardiomyocyte necrosis is seen

abnormal response to exercise ( J:57365 )

• after swimming, fractional shortening is unchanged in transgenic mice but is increased in controls

• mice exposed to swimming as exercise for 8 weeks show a slight increase in the incidence of fibrosis and myocyte disorganization compared to controls

muscle

increased myocardial fiber size ( J:57365 )

♂ • occasional mild myocyte hypertrophy in 20 week old males

♂ • cardiomyocytes exhibit nuclear gigantism, increased interstitial cellularity and fibrosis, indicators of myocyte hypertrophy

disorganized myocardium ( J:57365 )

• mild ventricular myocyte disorganization

• mice exposed to swimming as exercise for 8 weeks show a slight increase in the incidence of myocyte disorganization but no change in the degree of hypertrophy

myocardium hypertrophy ( J:57365 )

♂ • only about 5% of the total myocardium is affected by hypertrophy

decreased cardiac muscle contractility ( J:57365 )

• maximum rate of contraction (+dP/dt) is reduced and time to peak pressure is prolonged indicating diminished rate of contraction

• reduced contractile performance is maintained during maximal stimulation with isoproterenol, a beta-adrenergic agonist

decreased cardiac muscle relaxation ( J:57365 )

• maximum rate of relaxation (-dP/dt) is decreased and the time to one half relaxation is increased indicating diminished rates of relaxation

• reduced relaxation performance is maintained during maximal stimulation with isoproterenol, a beta-adrenergic agonist

growth/size/body

myocardium hypertrophy ( J:57365 )

♂ • only about 5% of the total myocardium is affected by hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 3		DOID:0110309	OMIM:115196	J:57365