Phenotypes Associated with This Genotype

Genotype
MGI:6276351

• Allelic Composition: Ncoa6^tm1Jkr/Ncoa6^tm1Jkr; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

mortality/aging

premature death ( J:269856 )

• mice start to die after 2 months of age, with an approximate 40% survival at 8 months of age

cardiovascular system

abnormal heart morphology ( J:269856 )

• cardiac lipid accumulation

• hearts show disarray of mitochondria, a decrease in the number of mitochondria, and impaired activity of mitochondrial complex II

increased heart weight ( J:269856 )

• increase heart weight-to-body weight ratios

• increase in heart weight is caused by atrial thrombi

• however, ventricle weight is not altered

cardiac hypertrophy ( J:269856 )

• hearts show increased expression of cardiac hypertrophy markers at 12 and 20 months of age but not a 4 weeks of age

• hearts of 12 week old mice show a hypertrophic phenotype, indicating that concentric hypertrophy transiently proceeds prior to dilated cardiomyopathy

dilated heart ( J:269856 )

• cardiac dilatation

dilated heart left ventricle ( J:269856 )

dilated cardiomyopathy ( J:269856 )

• hearts show features of dilated cardiomyopathy, including enlarged ventricular cavities with thin walls and reactive myocardial fibrosis

decreased cardiac muscle contractility ( J:269856 )

• diminished ejection fraction and fractional shortening

abnormal heart echocardiography feature ( J:269856 )

• echocardiography indicates severe dilatation of the left ventricle, decreased contractility without alteration in heart rate, diminished ejection fraction and fractional shortening, and enlarged left ventricular end-systolic dimensions and end-diastolic dimensions at 4 months of age

cellular

decreased mitochondrial number ( J:269856 )

• hearts show a decrease in the number of mitochondria

homeostasis/metabolism

abnormal atrial thrombosis ( J:269856 )

• atrial thrombi

abnormal lipid level ( J:269856 )

• cardiac lipid accumulation

muscle

dilated cardiomyopathy ( J:269856 )

• hearts show features of dilated cardiomyopathy, including enlarged ventricular cavities with thin walls and reactive myocardial fibrosis

decreased cardiac muscle contractility ( J:269856 )

• diminished ejection fraction and fractional shortening

abnormal sarcomere morphology ( J:269856 )

• disarray of sarcomeres in hearts

growth/size/body

increased heart weight ( J:269856 )

• increase heart weight-to-body weight ratios

• increase in heart weight is caused by atrial thrombi

• however, ventricle weight is not altered

cardiac hypertrophy ( J:269856 )

• hearts show increased expression of cardiac hypertrophy markers at 12 and 20 months of age but not a 4 weeks of age

• hearts of 12 week old mice show a hypertrophic phenotype, indicating that concentric hypertrophy transiently proceeds prior to dilated cardiomyopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:269856