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Phenotypes Associated with This Genotype
Genotype
MGI:6256757
Allelic
Composition
Tg(Myh6-Tpm1*D230N)HJcf/0
Genetic
Background
B6.FVB-Tg(Myh6-Tpm1*D230N)HJcf
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
growth/size/body
• heart weight to body weight measurements show that cardiac remodeling is seen as early as 2 months of age, and increased heart weight/body weight ratio is significant at 6 months
• however, inflammatory infiltration into hearts is not seen at 6 months and no myocardial fibrosis is detected

cardiovascular system
• hearts show broadened intercalated discs
• heart weight to body weight measurements show that cardiac remodeling is seen as early as 2 months of age, and increased heart weight/body weight ratio is significant at 6 months
• however, inflammatory infiltration into hearts is not seen at 6 months and no myocardial fibrosis is detected
• left ventricles are dilated in 6 month old mice
• decrease in contractile function of hearts, with decreased ejection fraction and percent fractional shortening
• however, cardiac output is normal
• pressure volume loop recordings show that left ventricular contractile function is decreased with no effect on relaxation, with decreased slope of the end systolic pressure-volume relationship and dPmax and increased end systolic volume and end diastolic volume, indicating a loss of contractile reserve
• echocardiography at 6 months indicates increased left ventricular chamber size, increased diastolic and systolic left ventricular internal diameters, increased end diastolic volume and end systolic volume, and decreased ejection fraction and percent fractional shortening
• isolated myocytes show increased rates of contraction and relaxation
• isolated myocytes show increased peak amplitude calcium transients and greater rates of calcium rise and fall at baseline
• the increase in rate of contraction and relaxation and increase in rate of calcium transients is less pronounced in myocytes stimulated with isoproterenol (beta-adrenergic stimulation) compared to controls
• myofilaments exhibit a reduced calcium sensitivity of sliding velocity

muscle
• hearts show broadened intercalated discs
• decrease in contractile function of hearts, with decreased ejection fraction and percent fractional shortening
• however, cardiac output is normal
• pressure volume loop recordings show that left ventricular contractile function is decreased with no effect on relaxation, with decreased slope of the end systolic pressure-volume relationship and dPmax and increased end systolic volume and end diastolic volume, indicating a loss of contractile reserve

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy 1Y DOID:0110457 OMIM:611878
J:243724


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
06/23/2022
MGI 6.20
The Jackson Laboratory