Phenotypes Associated with This Genotype

Genotype
MGI:6193898

• Allelic Composition: Tg(Myh6-MYL2*D94A)1Dsc/0
• Genetic Background: Not Specified

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

cardiovascular system

abnormal myocardium layer morphology ( J:258888 )

• myopathic vacuolar formations in the myocardium of 9 month old mice

dilated heart ventricle ( J:258888 )

• mice exhibit biventricular cardiac dilation by about 5 months of age

dilated heart left ventricle ( J:258888 )

• left ventricle chamber dilation in young males and in both males and females at 12 months of age

cardiac fibrosis ( J:258888 )

♂ • only mild fibrosis is seen in older male hearts

♂ • however, no myofilament disarray or extensive fibrosis is seen in left ventricular tissue from 5 and 12 month old mice

abnormal cardiovascular system physiology ( J:258888 )

• hemodynamic assessment and pressure-volume loop analysis shows decreased intact heart function in young and old mice

• diminished cardiac function is more severe in males than in females

• young and old mice show elevated arterial elastance

• mice exhibit decreased stroke work and prerecruitable stroke work decreased cardiac output MP:0003393

dilated cardiomyopathy ( J:258888 )

• mice develop progressive dilated cardiomyopathy by 12 months of age

decreased cardiac output ( J:258888 )

decreased cardiac muscle contractility ( J:258888 )

• severely reduced ejection fraction and fractional shortening in younger and older mice

• elevated end-systolic and end-diastolic volume

• however, mice do not exhibit diastolic dysfunction

abnormal heart echocardiography feature ( J:258888 )

• echocardiography shows that mice develop diminished cardiac function as heart chamber size increases

abnormal myocardial fiber physiology ( J:258888 )

• skinned and intact papillary muscle fibers exhibit abnormalities in myofilament contractility, with decrease in calcium sensitivity of force, reduced contractile force at submaximal calcium concentrations and faster (shorter time) relaxation phase of force transients

• cardiac myosin purified from ventricles shows hypocontractile activity reflecting a diminished ability of myosin to hydrolize ATP to produce energy for muscle contraction

• papillary muscle fibers exhibit less association of myosin heads with thin filaments

muscle

abnormal myocardium layer morphology ( J:258888 )

• myopathic vacuolar formations in the myocardium of 9 month old mice

dilated cardiomyopathy ( J:258888 )

• mice develop progressive dilated cardiomyopathy by 12 months of age

decreased cardiac muscle contractility ( J:258888 )

• severely reduced ejection fraction and fractional shortening in younger and older mice

• elevated end-systolic and end-diastolic volume

• however, mice do not exhibit diastolic dysfunction

abnormal sarcomere morphology ( J:258888 )

• hearts exhibit disrupted sarcomeric structures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:258888