Phenotypes Associated with This Genotype

Genotype
MGI:6324029

• Allelic Composition: Tg(Myh6-BAG3*P209L)#Mswi/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

cardiovascular system

abnormal pericyte morphology ( J:234278 )

• increase in pericytes in the left ventricle

abnormal heart morphology ( J:234278 )

• hearts exhibit the presence of pre-amyloid oligomers at 1 year of age

increased myocardial fiber size ( J:234278 )

• increase in cardiomyocyte size

• however, no alterations in sarcomere structure are seen

cardiac hypertrophy ( J:234278 )

abnormal heart left ventricle morphology ( J:234278 )

• hearts exhibit an increase in numbers of activated cardiac fibroblasts in the left ventricle and an increase in pericytes

• however, no increase in fibrosis is seen

dilated heart ( J:234278 )

• hearts exhibit significant dilatation at 8 months of age

• however, no difference in left ventricle mass or heart weight is seen at 12 months of age

abnormal cardiovascular system physiology ( J:234278 )

• echocardiography and Doppler analysis indicate progressive heart failure, however no evidence of congestive heart failure, such as fluid accumulation in the lungs, is seen

decreased cardiac muscle contractility ( J:234278 )

• systolic dysfunction is seen by 8 months of age and indicated by decreased fractional shortening and ejection fraction

decreased cardiac muscle relaxation ( J:234278 )

• Doppler analysis on the mitral valve shows an E/a waveform ratio of 1.0 compared to 2.0 in wild-type mice indicating reduced diastolic function

abnormal heart echocardiography feature ( J:234278 )

• transthoracic echocardiography indicates decreased anterior wall thickness in systole at 8 months, increased left ventricular end-systolic dimension at 8 and 12 months, decreased posterior wall thickness in diastole at 12 months, decreased left ventricular % ejection fraction at 8 and 12 months, and increased left ventricle volume in diastole at 12 months and in systole at 8 and 12 months

heart inflammation ( J:234278 )

• increase in infiltrating immune cells in the heart

cellular

decreased mitochondrial size ( J:234278 )

• mitochondria show a mild decrease in area in the heart

increased mitochondrial number ( J:234278 )

• increase in mitochondria in the heart

immune system

heart inflammation ( J:234278 )

• increase in infiltrating immune cells in the heart

muscle

increased myocardial fiber size ( J:234278 )

• increase in cardiomyocyte size

• however, no alterations in sarcomere structure are seen

decreased cardiac muscle contractility ( J:234278 )

• systolic dysfunction is seen by 8 months of age and indicated by decreased fractional shortening and ejection fraction

decreased cardiac muscle relaxation ( J:234278 )

• Doppler analysis on the mitral valve shows an E/a waveform ratio of 1.0 compared to 2.0 in wild-type mice indicating reduced diastolic function

growth/size/body

cardiac hypertrophy ( J:234278 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myofibrillar myopathy 6		DOID:0080097	OMIM:612954	J:234278