Phenotypes Associated with This Genotype

Genotype
MGI:5907236

• Allelic Composition: Tg(Myh6-Htr2b)1Lum/0
• Genetic Background: involves: CD-1

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

cardiovascular system

abnormal heart morphology ( J:128784 )

♂ • hearts show structural abnormalities along with mitochondrial proliferation in ventricular myocardium

♂ • hearts exhibit lipid deposition

abnormal myocardial fiber morphology ( J:128784 )

♂ • cardiomyocytes exhibit T-tubule enlargement

♂ • however, no myocardial apoptosis, fibrosis, or inflammatory cell infiltrates are seen

increased myocardial fiber number ( J:128784 )

♂ • heart shows 11% more cardiomyocytes than controls

increased myocardial fiber size ( J:128784 )

♂ • cardiomyocytes exhibit a 23% increase in size

cardiac hypertrophy ( J:128784 )

♂ • increase in the number of cardiomyocytes and increase in size of cardiomyocytes with no loss of systolic performance, indicating compensated cardiac hypertrophy

♂ • marker analysis indicates hypertrophic gene expression in hearts

increased heart left ventricle weight ( J:128784 )

♂ • increase in left ventricle weight-to-body weight ratio by 178%

thick ventricular wall ( J:128784 )

♂ • increase in the thickness of the left ventricular free wall in 12 week old males

abnormal heart echocardiography feature ( J:128784 )

♂ • echocardiography indicates that posterior wall thickness and the total left ventricular mass are increased in 12 week old males

♂ • however, left ventricular end-systolic or end-diastolic diameters, fractional shortening, or systolic blood pressures are not altered

increased heart rate ( J:128784 )

♂ • heart rate is slightly increased in 12 week old males

cellular

abnormal mitochondrial morphology ( J:128784 )

♂

abnormal mitochondrial shape ( J:128784 )

♂ • mitochondria are rounded and irregular in hearts

increased mitochondrial number ( J:128784 )

♂ • mitochondria are higher in number in hearts

abnormal respiratory electron transport chain ( J:128784 )

♂ • hearts show increased activity of succinate dehydrogenase and cytochrome C oxidase and decreased adenine nucleotide translocator protein expression, indicating increased respiratory chain and oxidative phosphorylation in the mitochondria

increased mitochondrial fission ( J:128784 )

♂ • hearts show increased mitochondrial proliferation in ventricular myocardium

abnormal oxidative phosphorylation ( J:128784 )

♂ • hearts show increased activity of succinate dehydrogenase and cytochrome C oxidase and decreased adenine nucleotide translocator protein expression, indicating increased respiratory chain and oxidative phosphorylation in the mitochondria

muscle

abnormal myocardial fiber morphology ( J:128784 )

♂ • cardiomyocytes exhibit T-tubule enlargement

♂ • however, no myocardial apoptosis, fibrosis, or inflammatory cell infiltrates are seen

increased myocardial fiber number ( J:128784 )

♂ • heart shows 11% more cardiomyocytes than controls

increased myocardial fiber size ( J:128784 )

♂ • cardiomyocytes exhibit a 23% increase in size

growth/size/body

cardiac hypertrophy ( J:128784 )

♂ • increase in the number of cardiomyocytes and increase in size of cardiomyocytes with no loss of systolic performance, indicating compensated cardiac hypertrophy

♂ • marker analysis indicates hypertrophic gene expression in hearts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy		DOID:11984		J:128784