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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Myh6tm1.1Jpsc
targeted mutation 1.1, Joachim P Schmitt
MGI:6356699
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Myh6tm1.1Jpsc/Myh6tm1.1Jpsc involves: 129 MGI:6356717
ht2
Myh6tm1.1Jpsc/Myh6+ involves: 129 MGI:6356708
ht3
Myh6tm1.1Jpsc/Myh6tm2Jse involves: 129 MGI:6356709


Genotype
MGI:6356717
hm1
Allelic
Composition
Myh6tm1.1Jpsc/Myh6tm1.1Jpsc
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• morphology and function of hearts do not differ from controls and mice do not show cardiac hypertrophy




Genotype
MGI:6356708
ht2
Allelic
Composition
Myh6tm1.1Jpsc/Myh6+
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• end-diastolic left ventricular anterior wall thickness and dimensions, as well as fractional shortening are normal at 26 weeks of age and 8 week old mice show normal left ventricular pressures, contraction and relaxation
• hearts show no detectable morphological differences at 78 weeks of age
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment

homeostasis/metabolism
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment

growth/size/body
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment




Genotype
MGI:6356709
ht3
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





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory