Phenotypes Associated with This Genotype

Genotype
MGI:5906019

• Allelic Composition: Tg(Myh6-Tpm1*E54K)30Dfw/0
• Genetic Background: involves: FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:137813 )

• most mice die within 1.5 months

cardiovascular system

abnormal myocardial fiber morphology ( J:137813 )

• 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

increased myocardial fiber size ( J:137813 )

• the ventricular wall shows moderate myocyte hypertrophy

increased heart weight ( J:137813 )

• increase in heart weight-to-body weight ratio at 1 month of age

dilated heart ventricle ( J:137813 )

• dilation in both ventricles by 2 weeks of age

dilated cardiomyopathy ( J:137813 )

• mice develop a severe dilated cardiomyopathy phenotype by 2 weeks, with dilation seen in both the ventricles

decreased cardiac output ( J:137813 )

• cardiac output is reduced in 1 month old mice

• however, heart rate is unaffected

decreased cardiac muscle contractility ( J:137813 )

• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

decreased ventricle muscle contractility ( J:137813 )

• hearts show increased left ventricle diastolic and systolic diameter and a reduction in the left ventricle fractional shortening in 1 month old mice

decreased cardiac muscle relaxation ( J:137813 )

• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

decreased left ventricle diastolic pressure ( J:137813 )

• end-diastolic and diastolic pressures are increased in 1 month old hearts ex vivo

decreased left ventricle systolic pressure ( J:137813 )

• systolic pressure is decreased in 1 month old hearts ex vivo

abnormal myocardial fiber physiology ( J:137813 )

• skinned left ventricular fiber bundles from 1 month old mice show a severe depression in maximum tension and a decrease in myofilament calcium sensitivity

congestive heart failure ( J:137813 )

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:137813 )

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

muscle

abnormal myocardial fiber morphology ( J:137813 )

• 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

increased myocardial fiber size ( J:137813 )

• the ventricular wall shows moderate myocyte hypertrophy

dilated cardiomyopathy ( J:137813 )

• mice develop a severe dilated cardiomyopathy phenotype by 2 weeks, with dilation seen in both the ventricles

decreased cardiac muscle contractility ( J:137813 )

• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

decreased ventricle muscle contractility ( J:137813 )

• hearts show increased left ventricle diastolic and systolic diameter and a reduction in the left ventricle fractional shortening in 1 month old mice

decreased cardiac muscle relaxation ( J:137813 )

• 1 month old hearts ex vivo show reduced rates of relaxation and contraction with increased time to peak pressure and half-time to relaxation

growth/size/body

increased heart weight ( J:137813 )

• increase in heart weight-to-body weight ratio at 1 month of age

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