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Phenotypes Associated with This Genotype
Genotype
MGI:6356709
Allelic
Composition
Myh6tm1.1Jpsc/Myh6tm2Jse
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1.1Jpsc mutation (0 available); any Myh6 mutation (206 available)
Myh6tm2Jse mutation (0 available); any Myh6 mutation (206 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice live to adulthood but die prematurely at a mean age of 62 +/- 8 weeks

cardiovascular system
• heart myocytes are enlarged
• heart-to-body weight ratio is increased compared to wild-type mice or Myh6tm1.1Jpsc heterozygotes
• hypertrophy of hearts rapidly progresses and exceeds the wall thickness of Myh6tm1.1Jpsc heterozygotes by more than 50% at 26 weeks of age
• markers of hypertrophy are elevated already at 6-8 weeks of age
• left ventricular wall thickness is almost doubled compared to Myh6tm1.1Jpsc heterozygotes
• myocardium shows massive fibrosis that is detectable at 10 weeks of age and progresses over time
• left atrial tissue generates only 46% of the force produced by Myh6tm1.1Jpsc heterozygous tissue and the speed of force generation and speed of force decay are reduced
• beta-adrenergic stimulation fails to enhance slow contraction and relaxation of hearts indicating a loss of cardiac reserve
• ventricular stroke volume is depressed in 26 week old mice
• end-diastolic volumes are low and ventricular stroke volume is depressed in 26 week old mice and left ventricles show depressed velocities of pressure rise and low maximal left ventricular pressures at 6-8 weeks of age, indicating impaired systolic function
• however, fractional shortening is conserved at 26 weeks of age
• left ventricular relaxation is impaired in 6-8 week old mice, with reduced left ventricular end-diastolic volume and reduced maximum speed of pressure decay, indicating diastolic dysfunction before the development of hypertrophy and fibrosis
• echocardiography indicates increased left ventricular anterior wall thickness and posterior wall thickness in systole and in diastole, decreased left ventricle diameter, and decreased stroke volume

muscle
• heart myocytes are enlarged
• end-diastolic volumes are low and ventricular stroke volume is depressed in 26 week old mice and left ventricles show depressed velocities of pressure rise and low maximal left ventricular pressures at 6-8 weeks of age, indicating impaired systolic function
• however, fractional shortening is conserved at 26 weeks of age
• left ventricular relaxation is impaired in 6-8 week old mice, with reduced left ventricular end-diastolic volume and reduced maximum speed of pressure decay, indicating diastolic dysfunction before the development of hypertrophy and fibrosis

growth/size/body
• heart-to-body weight ratio is increased compared to wild-type mice or Myh6tm1.1Jpsc heterozygotes
• hypertrophy of hearts rapidly progresses and exceeds the wall thickness of Myh6tm1.1Jpsc heterozygotes by more than 50% at 26 weeks of age
• markers of hypertrophy are elevated already at 6-8 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
J:247162


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory