Phenotypes Associated with This Genotype

Genotype
MGI:5560005

• Allelic Composition: Tg(Myh6-PRKCE*A159E)344Robo/?
• Genetic Background: involves: FVB

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

cardiovascular system

calcified myocardium ( J:133478 )

• extensive calcification of the left atria is seen at 12 months of age

increased heart weight ( J:133478 )

• increase in whole heart-to-body weight ratio at 12 months of age

abnormal cardiovascular system physiology ( J:133478 )

• indices of cardiac function are depressed in 12 month old mice, with decreases in pulmonary artery time volume index, stroke volume, and cardiac output

dilated cardiomyopathy ( J:133478 )

• progressive development of dilated cardiomyopathy that leads to heart failure

• left ventricular end-diastolic and systolic dimensions are increased, with no increase in either the interventricular septum or posterior wall thickness, indicating dilated nonhypertrophic cardiomyopathy

decreased cardiac output ( J:133478 )

• in 12 month old mice

decreased cardiac stroke volume ( J:133478 )

• in 12 month old mice

decreased cardiac muscle contractility ( J:133478 )

• decrease in contractility at 9 and 12 months of age

• relative ejection fraction is decreased, with no differences in heart rate

• the slope of the end-systolic pressure-volume relationship, a preload-independent measure of contractility, measured after inferior vena cava occlusion is reduced and right-shifted

• 6 month old mice exhibit a blunted contractility response to dobutamine and a decrease in peak systolic pressure

abnormal myocardial fiber physiology ( J:133478 )

• increase in myofibrillar calcium sensitivity at 3 months of age, however by 6 months of age, there is a decrease in the myofibrillar calcium sensitivity

• myofibrils show a decline in baseline function and maximum tension

decreased systemic arterial systolic blood pressure ( J:133478 )

• decrease in systolic blood pressure at 9 and 12 months of age

• the end systolic pressure-volume relationship shows a decreased slope and systolic pressure is 20% lower in the mutant ventricle compared to controls

congestive heart failure ( J:133478 )

muscle

calcified myocardium ( J:133478 )

• extensive calcification of the left atria is seen at 12 months of age

dilated cardiomyopathy ( J:133478 )

• progressive development of dilated cardiomyopathy that leads to heart failure

• left ventricular end-diastolic and systolic dimensions are increased, with no increase in either the interventricular septum or posterior wall thickness, indicating dilated nonhypertrophic cardiomyopathy

decreased cardiac muscle contractility ( J:133478 )

• decrease in contractility at 9 and 12 months of age

• relative ejection fraction is decreased, with no differences in heart rate

• the slope of the end-systolic pressure-volume relationship, a preload-independent measure of contractility, measured after inferior vena cava occlusion is reduced and right-shifted

• 6 month old mice exhibit a blunted contractility response to dobutamine and a decrease in peak systolic pressure

growth/size/body

increased heart weight ( J:133478 )

• increase in whole heart-to-body weight ratio at 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:198401