Phenotypes Associated with This Genotype

Genotype
MGI:5576171

• Allelic Composition: Tg(Myh6-TNNT2*R141W)#Lian/0
• Genetic Background: involves: C57BL/6J

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

mortality/aging

premature death ( J:211769 )

• premature death beginning at 4 months of age, with 11.1% immature death between 4 and 8 months of age

cardiovascular system

abnormal myocardial fiber morphology ( J:211769 )

• increase in interstitial collagen content

cardiac hypertrophy ( J:211769 )

• increase in expression of markers of cardiac hypertrophy and hypertrophic myocardiocytes

abnormal heart left ventricle morphology ( J:211769 )

• the left ventricular end-systolic diameter and end-diastolic diameter are increased by 58.3% and 27.8%, respectively, at 4 months of age

• the left ventricular systolic volume and diastolic volume are increased by 191.2% and by 75.9%, respectively, at 4 months of age

decreased heart left ventricle wall thickness ( J:211769 )

• thinner wall of left ventricle

dilated heart ventricle ( J:211769 )

cardiac interstitial fibrosis ( J:211769 )

• increase in interstitial collagen content

dilated cardiomyopathy ( J:211769 )

• both left ventricular systolic volume and left ventricular diastolic volume are increased about 2-fold at 8 months, while percent ejection fraction is decreased by 36.7% at 8 months and percent fractional shortening decreased by 39.7% at 8 months

decreased cardiac muscle contractility ( J:211769 )

• percent ejection fraction and percent fractional shorting are decreased by 39.9% and 45.4%, respectively, at 4 months of age

• interventricular septal movement and posterior wall movement is decreased by 40.3% and 47.9%, respectively, at 4 months of age

homeostasis/metabolism

abnormal thrombosis ( J:211769 )

• mural thrombi

muscle

abnormal myocardial fiber morphology ( J:211769 )

• increase in interstitial collagen content

dilated cardiomyopathy ( J:211769 )

• both left ventricular systolic volume and left ventricular diastolic volume are increased about 2-fold at 8 months, while percent ejection fraction is decreased by 36.7% at 8 months and percent fractional shortening decreased by 39.7% at 8 months

decreased cardiac muscle contractility ( J:211769 )

• percent ejection fraction and percent fractional shorting are decreased by 39.9% and 45.4%, respectively, at 4 months of age

• interventricular septal movement and posterior wall movement is decreased by 40.3% and 47.9%, respectively, at 4 months of age

growth/size/body

cardiac hypertrophy ( J:211769 )

• increase in expression of markers of cardiac hypertrophy and hypertrophic myocardiocytes

cellular

cardiac interstitial fibrosis ( J:211769 )

• increase in interstitial collagen content

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1D		DOID:0110426	OMIM:601494	J:211769