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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Myh6-MYL2*K104E)2Dsc
transgene insertion, Danuta Szczesna-Cordary
MGI:6193977
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
tg1
Tg(Myh6-MYL2*K104E)2Dsc/0 involves: C57BL/6 * SJL MGI:6193978


Genotype
MGI:6193978
tg1
Allelic
Composition
Tg(Myh6-MYL2*K104E)2Dsc/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• hearts of both young and old mice exhibit increased mitochondria
• however, sarcomeric structure in the myocardium at 6 months of age is normal
• mice aged over 13 months exhibit hypertrophy of both anterior and posterior wall and an approximate 1.6-fold higher left ventricle mass indicating that cardiac hypertrophy develops in senescent mice
• hypertrophic phenotype in old mice shows a concentric pattern manifested by reduced left ventricle diameter in systole and diastole
• mild fibrosis is seen at 8 months of age which severely increases in 15 month old mice
• the ejection fraction is higher in older mice, indicating that hypertrophy does not compromise systolic function
• 6 month old mice show a prolonged isovolumic relaxation time (Tau) and a tendency for slower rate of pressure decline, indicating diastolic function alterations
• mice show mild signs of diastolic disturbance with lower E/A ratios at 6 months of age
• however, mice show preserved systolic function at 6 months of age
• echocardiography with pulse wave Doppler shows diastolic disturbance with reduced E/A transmitral velocities ratio in 6 month old mice
• skinned papillary muscles from 5-6 month old mice show reduced maximal tension and slower muscle relaxation rates
• skinned papillary muscle shows increased levels of passive tension suggesting an increase in muscle stiffness in the myocardium
• myofibril myosin cross-bridges show an increase in the rate of biding to thin filaments and a faster rate of power stroke and decrease in the rate of transition to a rigor-like state, suggesting that cross-bridges stay attached longer to actin and relaxation takes a longer time to be completed
• myosin ATPase activity is higher, indicating increased energy consumption
• in in vitro motility assay, myosin produces higher actin sliding velocity under zero load but velocity decreases with applied load
• echocardiography of old mice indicates hypertrophic cardiomyopathy

cellular
• hearts of both young and old mice exhibit increased mitochondria

muscle
• the ejection fraction is higher in older mice, indicating that hypertrophy does not compromise systolic function
• 6 month old mice show a prolonged isovolumic relaxation time (Tau) and a tendency for slower rate of pressure decline, indicating diastolic function alterations
• mice show mild signs of diastolic disturbance with lower E/A ratios at 6 months of age
• however, mice show preserved systolic function at 6 months of age
• echocardiography of old mice indicates hypertrophic cardiomyopathy

growth/size/body
• mice aged over 13 months exhibit hypertrophy of both anterior and posterior wall and an approximate 1.6-fold higher left ventricle mass indicating that cardiac hypertrophy develops in senescent mice
• hypertrophic phenotype in old mice shows a concentric pattern manifested by reduced left ventricle diameter in systole and diastole

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 10 DOID:0110316 OMIM:608758
J:263776





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory