Phenotypes Associated with This Genotype

Genotype
MGI:3799202

• Allelic Composition: Tg(Myh6*)140Lnwd/0
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:134706 )

• mice show increased mortality by one year compared to controls

cardiovascular system

abnormal vascular smooth muscle morphology ( J:31537 , J:36522 )

• thickening of the smooth muscle layer of the small coronary vessels (J:36522)

myocardial fiber degeneration ( J:36522 )

• myocardial fiber degeneration [MP:0004566] myofibrillar disarray and degeneration

• severely affected myocytes often border normal cells with frequent loss of myofibrils bordering the intercalated disc

abnormal coronary vessel morphology ( J:31537 , J:36522 )

• hearts show evidence of small vessel coronary disease, exhibiting thickening of the smooth muscle layer of the small coronary vessels (J:36522)

increased heart weight ( J:134706 )

• mice have slightly increased heart weight to body weight ratio compared to control mice

cardiac hypertrophy ( J:31537 , J:36522 , J:134706 )

• mutants exhibit hypertrophic cardiomyopathy including focal myocyte hypertrophy and myocellular disarray with increased matrix accumulation (J:31537)

• hypertrophied myocytes are seen throughout the left ventricle with the largest number in the septum (J:31537)

• cardiac hypertrophy is seen by 12 weeks of age (J:36522)

• fibrosis and cellular disarray are apparent to variable extent at 8 months of age (J:134706)

heart left ventricle hypertrophy ( J:31537 , J:36522 , J:134706 )

• left ventricular hypertrophy (35% increase) is observed by 14-15 weeks of age (J:31537)

• hypertrophic cardiopathy in the left ventricle at 12-14 weeks of age, with focal myocyte hypertrophy and myocellular disarray with increased matrix accumulation (J:36522)

• hypertrophy increases with age in females such than by 8 months of age, it more than doubles that observed at 12 weeks of age (J:36522)

• males do not exhibit increased hypertrophy at 8 months of age but exhibit severe dilation (J:36522)

• mice show modest hypertrophy of the left ventricle (J:134706)

dilated heart left ventricle ( J:36522 )

• males do not exhibit increased hypertrophy at 8 months of age but exhibit severe dilation, with a dilated ventricular cavity that is almond-shaped

decreased cardiac muscle contractility ( J:134706 )

• mice have decreased fractional shortening at 8 and 12 months but not 4 months of age

homeostasis/metabolism

impaired exercise endurance ( J:134706 )

• mice have impaired exercise tolerance on a treadmill compared to controls at 8 months of age

muscle

abnormal vascular smooth muscle morphology ( J:31537 , J:36522 )

• thickening of the smooth muscle layer of the small coronary vessels (J:36522)

myocardial fiber degeneration ( J:36522 )

• myocardial fiber degeneration [MP:0004566] myofibrillar disarray and degeneration

• severely affected myocytes often border normal cells with frequent loss of myofibrils bordering the intercalated disc

heart left ventricle hypertrophy ( J:31537 , J:36522 , J:134706 )

• left ventricular hypertrophy (35% increase) is observed by 14-15 weeks of age (J:31537)

• hypertrophic cardiopathy in the left ventricle at 12-14 weeks of age, with focal myocyte hypertrophy and myocellular disarray with increased matrix accumulation (J:36522)

• hypertrophy increases with age in females such than by 8 months of age, it more than doubles that observed at 12 weeks of age (J:36522)

• males do not exhibit increased hypertrophy at 8 months of age but exhibit severe dilation (J:36522)

• mice show modest hypertrophy of the left ventricle (J:134706)

decreased cardiac muscle contractility ( J:134706 )

• mice have decreased fractional shortening at 8 and 12 months but not 4 months of age

behavior/neurological

impaired exercise endurance ( J:134706 )

• mice have impaired exercise tolerance on a treadmill compared to controls at 8 months of age

growth/size/body

increased heart weight ( J:134706 )

• mice have slightly increased heart weight to body weight ratio compared to control mice

cardiac hypertrophy ( J:31537 , J:36522 , J:134706 )

• mutants exhibit hypertrophic cardiomyopathy including focal myocyte hypertrophy and myocellular disarray with increased matrix accumulation (J:31537)

• hypertrophied myocytes are seen throughout the left ventricle with the largest number in the septum (J:31537)

• cardiac hypertrophy is seen by 12 weeks of age (J:36522)

• fibrosis and cellular disarray are apparent to variable extent at 8 months of age (J:134706)

heart left ventricle hypertrophy ( J:31537 , J:36522 , J:134706 )

• left ventricular hypertrophy (35% increase) is observed by 14-15 weeks of age (J:31537)

• hypertrophic cardiopathy in the left ventricle at 12-14 weeks of age, with focal myocyte hypertrophy and myocellular disarray with increased matrix accumulation (J:36522)

• hypertrophy increases with age in females such than by 8 months of age, it more than doubles that observed at 12 weeks of age (J:36522)

• males do not exhibit increased hypertrophy at 8 months of age but exhibit severe dilation (J:36522)

• mice show modest hypertrophy of the left ventricle (J:134706)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 14		DOID:0110320	OMIM:613251	J:31537 , J:36522