Phenotypes Associated with This Genotype

Genotype
MGI:5905195

• Allelic Composition: Lrrc10^tm1Sgt/Lrrc10^tm1Sgt
• Genetic Background: B6.129P2-Lrrc10^tm1Sgt

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

cardiovascular system

abnormal myocardial fiber morphology ( J:195548 )

• increase in length of cardiomyocytes without change in cell width, suggesting eccentric cardiac growth

enlarged heart ( J:195548 )

• enlarged hearts at 4 and 10 months of age with wet heart weight-to-body weight ratios increased

cardiac hypertrophy ( J:195548 )

• hearts show induction of fetal genes Nppa, Myh7 and Nppb, indicating cardiac hypertrophy

dilated heart left ventricle ( J:195548 )

• left ventricular chamber dilation in adults

dilated cardiomyopathy ( J:195548 )

• early-onset cardiomyopathy that develops into dilated cardiomyopathy by 1 month of age

• hearts develop dilated phenotype showing a reduction in the ratio of left ventricular wall and septal thickness to left ventricle chamber radius which indicates eccentric cardiac growth

• however, no concentric hypertrophic growth or left ventricle wall thickening is seen, no changes in heart rate or mitral and aortic valve function are seen, no myocyte disarray or fibrosis, or cardiomyocyte proliferation and apoptosis alterations are seen

decreased cardiac muscle contractility ( J:195548 )

• systolic dysfunction with increases in left ventricular inner diameter at end diastole and end systole within one month of age

• decrease in fractional shortening at all ages examined, indicating defective cardiac function during perinatal and postnatal life

• systolic function impairment is seen as early as E17.5

• however, intraventricular septal or left ventricle posterior wall thickness is not changed

• passive force generation at a given sarcomere length in trabecular myocardium is similar to controls and myofilament calcium sensitivity is unaltered

mortality/aging

mortality/aging ( J:195548 )

N • mice exhibit normal life span

muscle

abnormal myocardial fiber morphology ( J:195548 )

• increase in length of cardiomyocytes without change in cell width, suggesting eccentric cardiac growth

dilated cardiomyopathy ( J:195548 )

• early-onset cardiomyopathy that develops into dilated cardiomyopathy by 1 month of age

• hearts develop dilated phenotype showing a reduction in the ratio of left ventricular wall and septal thickness to left ventricle chamber radius which indicates eccentric cardiac growth

• however, no concentric hypertrophic growth or left ventricle wall thickening is seen, no changes in heart rate or mitral and aortic valve function are seen, no myocyte disarray or fibrosis, or cardiomyocyte proliferation and apoptosis alterations are seen

decreased cardiac muscle contractility ( J:195548 )

• systolic dysfunction with increases in left ventricular inner diameter at end diastole and end systole within one month of age

• decrease in fractional shortening at all ages examined, indicating defective cardiac function during perinatal and postnatal life

• systolic function impairment is seen as early as E17.5

• however, intraventricular septal or left ventricle posterior wall thickness is not changed

• passive force generation at a given sarcomere length in trabecular myocardium is similar to controls and myofilament calcium sensitivity is unaltered

growth/size/body

enlarged heart ( J:195548 )

• enlarged hearts at 4 and 10 months of age with wet heart weight-to-body weight ratios increased

cardiac hypertrophy ( J:195548 )

• hearts show induction of fetal genes Nppa, Myh7 and Nppb, indicating cardiac hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:195548