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Phenotypes Associated with This Genotype
Genotype
MGI:5906020
Allelic
Composition
Tg(Myh6-Tpm1*E54K)67Dfw/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Myh6-Tpm1*E54K)67Dfw mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice start dying by 4-6 months of age, with 38% dying by 8 months of age

cardiovascular system
• mild disorganization of the myocytes at the base of the ventricles
• hearts show mild myocyte hypertrophy at 2 months of age
• despite the increase in body weight by 5 months, the heart weight to body weight ratio is still increased
• by 5 months, mice develop significant dilation of both ventricles
• hearts show very mild interstitial fibrosis after 2 months of age
• mice tend to develop dilated cardiomyopathy after 2 months of age
• mice that survive beyond 8 months develop dilated cardiomyopathy
• mice show an upregulation of molecular markers of cardiomyopathy at 5 months of age
• cardiac output is reduced in 5 month old mice
• however, heart rate is unaffected
• 3 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 5 month old mice
• 3 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 3 month old hearts ex vivo
• systolic pressure is decreased in 3 month old hearts ex vivo
• skinned left ventricular fiber bundles from 5 month old mice show a severe depression in maximum tension and a decrease in myofilament calcium sensitivity

growth/size/body
• despite the increase in body weight by 5 months, the heart weight to body weight ratio is still increased
• about 50% increase in body weight by 5 months of age, most likely attributable to edema

homeostasis/metabolism
• peripheral edema by 5 months of age
• however, no ascites formation is seen and lung weight is normal
• hearts show a blunted response to lower concentrations of isoproterenol, a beta-adrenergic agonist, however a steep increase in performance is seen at higher concentrations of isoproterenol, restoring normal cardiac function

muscle
• mild disorganization of the myocytes at the base of the ventricles
• hearts show mild myocyte hypertrophy at 2 months of age
• mice tend to develop dilated cardiomyopathy after 2 months of age
• mice that survive beyond 8 months develop dilated cardiomyopathy
• mice show an upregulation of molecular markers of cardiomyopathy at 5 months of age
• 3 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 5 month old mice
• 3 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

respiratory system
• moderate diffuse peribronchiolar neutrophil cuffing is seen in the lungs by 5 months of age

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
02/16/2021
MGI 6.16
The Jackson Laboratory