cardiovascular system
• myocyte disarray and loss of the close lateral alignment of myofibrils are seen
|
• heart to body weight ratios are increased as is the thickness of the anterior and posterior walls
• hypertrophy is seen in 3 week old homozygotes
|
• foci of interstitial fibrosis were seen in 3 out of 5 homozygotes
|
• Ca2+ sensitivity of tension is reduced in myocytes from mutant hearts
|
• left ventricular fractional shortening is significantly reduced
|
• skinned cardiomyocytes from homozygotes exhibit faster loaded shortening velocities, greater power output, and increased force redevelopment rates, due to increased crossbridge interaction kinetics resulting from absence of myosin head constraints
• peak normalized power output is increased by 26% in mutant cardiomyocytes during maximal Ca2+ activations
• peak power output is increased to an even greater extent (46%) during half-maximal Ca2+ activations
• the rate constant of force redevelopment (ktr) is unaltered during maximal Ca2+ activations; however, ktr at half-maximal Ca2+ activation is significantly greater in mutant cardiomyocytes relative to wild-type
|
• hypertrophic cardiomyopathy is seen
|
growth/size/body
• heart to body weight ratios are increased as is the thickness of the anterior and posterior walls
• hypertrophy is seen in 3 week old homozygotes
|
muscle
• myocyte disarray and loss of the close lateral alignment of myofibrils are seen
|
• Ca2+ sensitivity of tension is reduced in myocytes from mutant hearts
|
• left ventricular fractional shortening is significantly reduced
|
• hypertrophic cardiomyopathy is seen
|
cellular
• foci of interstitial fibrosis were seen in 3 out of 5 homozygotes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hypertrophic cardiomyopathy 4 | DOID:0110310 |
OMIM:115197 |
J:95725 |