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Phenotypes Associated with This Genotype
Genotype
MGI:5906019
Allelic
Composition
Tg(Myh6-Tpm1*E54K)30Dfw/0
Genetic
Background
involves: FVB/N
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
• increase in heart weight-to-body weight ratio at 1 month of age

mortality/aging
• most mice die within 1.5 months

cardiovascular system
• the ventricular wall shows moderate myocyte hypertrophy with severe diffuse hyalinization of the myocyte cytoplasm
• myocyte cytoplasm shows loss of striation and a homogenous, ground-glass appearance
• the ventricular wall shows moderate myocyte hypertrophy
• increase in heart weight-to-body weight ratio at 1 month of age
• dilation in both ventricles by 2 weeks of age
• mice develop a severe dilated cardiomyopathy phenotype by 2 weeks, with dilation seen in both the ventricles
• cardiac output is reduced in 1 month old mice
• however, heart rate is unaffected
• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation
• hearts show increased left ventricle diastolic and systolic diameter and a reduction in the left ventricle fractional shortening in 1 month old mice
• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation
• end-diastolic and diastolic pressures are increased in 1 month old hearts ex vivo
• systolic pressure is decreased in 1 month old hearts ex vivo
• skinned left ventricular fiber bundles from 1 month old mice show a severe depression in maximum tension and a decrease in myofilament calcium sensitivity

homeostasis/metabolism
• hearts show a blunted response to both low and high concentrations of isoproterenol, a beta-adrenergic agonist

muscle
• the ventricular wall shows moderate myocyte hypertrophy with severe diffuse hyalinization of the myocyte cytoplasm
• myocyte cytoplasm shows loss of striation and a homogenous, ground-glass appearance
• the ventricular wall shows moderate myocyte hypertrophy
• mice develop a severe dilated cardiomyopathy phenotype by 2 weeks, with dilation seen in both the ventricles
• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation
• hearts show increased left ventricle diastolic and systolic diameter and a reduction in the left ventricle fractional shortening in 1 month old mice
• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy 1Y DOID:0110457 OMIM:611878
J:137813


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
06/28/2022
MGI 6.20
The Jackson Laboratory