Mouse Genome Informatics
tg
    Tg(Myh6*)140Lnwd/0
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice show increased mortality by one year compared to controls

cardiovascular system
• thickening of the smooth muscle layer of the small coronary vessels (J:36522)
• hearts show evidence of small vessel coronary disease, exhibiting thickening of the smooth muscle layer of the small coronary vessels (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
• mice have slightly increased heart weight to body weight ratio compared to control mice
• 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)
• 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)
• males do not exhibit increased hypertrophy at 8 months of age but exhibit severe dilation, with a dilated ventricular cavity that is almond-shaped
• mice have decreased fractional shortening at 8 and 12 months but not 4 months of age

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

muscle
• thickening of the smooth muscle layer of the small coronary vessels (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
• mice have decreased fractional shortening at 8 and 12 months but not 4 months of age

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

Mouse Models of Human Disease
OMIM IDRef(s)
Cardiomyopathy, Familial Hypertrophic, 14; CMH14 613251 J:31537 , J:36522