Phenotypes Associated with This Genotype

Genotype
MGI:5907286

• Allelic Composition: Tg(Myh6-LMNA*E82K)35Lizh/0
• Genetic Background: involves: C57BL/6J

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

mortality/aging

premature death ( J:167734 )

• 15.8% mortality at 10 months of age

cardiovascular system

abnormal cardiac muscle tissue morphology ( J:167734 )

• myocyte disarray

abnormal myocardial fiber morphology ( J:167734 )

• myocytes exhibit enlarged mitochondria and sarcoplasmic reticulum and loss of nuclear envelope integrity

increased heart weight ( J:167734 )

• heart to body weight ratio is increased by 10%

cardiac hypertrophy ( J:167734 )

• expression levels of hypertrophic markers are increased

thin ventricular wall ( J:167734 )

• hearts exhibit thin-walled ventricles

dilated heart ventricle ( J:167734 )

• hearts exhibit dilated left and right ventricles

dilated heart left ventricle ( J:167734 )

• mice develop progressive left ventricle dilation

cardiac interstitial fibrosis ( J:167734 )

dilated cardiomyopathy ( J:167734 )

decreased cardiac muscle contractility ( J:167734 )

• progressive decrease of contractile function, with decreased percent fractional shortening and ejection fraction from 2 months of age

decreased heart left ventricle muscle contractility ( J:167734 )

• mice develop progressive left ventricular dysfunction

abnormal heart echocardiography feature ( J:167734 )

• echocardiography indicates increased left ventricular end-diastole and end-systole diameters, increased left ventricular end-diastolic and end-systole volume, decreased left ventricular posterior wall at end-diastole and end-systole, decreased left ventricular anterior wall at end-diastole and end-systole, decreased percent ejection fraction and decreased percent fractional shortening

prolonged QRS complex duration ( J:167734 )

• increase in QRS complex duration at 7 months of age

cellular

cardiac interstitial fibrosis ( J:167734 )

increased mitochondrial size ( J:167734 )

• cardiomyocytes exhibit enlarged mitochondria

increased cardiomyocyte apoptosis ( J:167734 )

abnormal mitochondrial physiology ( J:167734 )

• hearts show release of cytochrome c from mitochondria to cytosol

muscle

abnormal cardiac muscle tissue morphology ( J:167734 )

• myocyte disarray

abnormal myocardial fiber morphology ( J:167734 )

• myocytes exhibit enlarged mitochondria and sarcoplasmic reticulum and loss of nuclear envelope integrity

dilated cardiomyopathy ( J:167734 )

decreased cardiac muscle contractility ( J:167734 )

• progressive decrease of contractile function, with decreased percent fractional shortening and ejection fraction from 2 months of age

decreased heart left ventricle muscle contractility ( J:167734 )

• mice develop progressive left ventricular dysfunction

increased cardiomyocyte apoptosis ( J:167734 )

abnormal sarcomere morphology ( J:167734 )

• abnormal sarcomeres in cardiomyocytes

growth/size/body

increased heart weight ( J:167734 )

• heart to body weight ratio is increased by 10%

cardiac hypertrophy ( J:167734 )

• expression levels of hypertrophic markers are increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1A		DOID:0110425	OMIM:115200	J:167734