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Phenotypes Associated with This Genotype
Genotype
MGI:3527229
Allelic
Composition
Mybpc3tm1Rmos/Mybpc3tm1Rmos
Genetic
Background
either: (involves: 129) or (involves: 129 * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mybpc3tm1Rmos mutation (0 available); any Mybpc3 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

muscle
• Ca2+ sensitivity of tension is reduced in myocytes from mutant hearts
• left ventricular fractional shortening is significantly reduced
• hypertrophic cardiomyopathy is seen

Mouse Models of Human Disease
OMIM ID Ref(s)
Cardiomyopathy, Familial Hypertrophic, 4; CMH4 115197 J:95725


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory