Phenotypes Associated with This Genotype

Genotype
MGI:6107901

• Allelic Composition: Bag3^{tm1c(EUCOMM)Hmgu}/Bag3^{tm1c(EUCOMM)Hmgu}; Tg(Myhca-cre)1Abel/0
• Genetic Background: involves: C57BL/6N * FVB/N
• Cell Lines: HEPD0556_7_B06

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

Dilated cardiomyopathy in Bag3^{tm1c(EUCOMM)Hmgu}/Bag3^{tm1c(EUCOMM)Hmgu} Tg(Myhca-cre)1Abel/0 mice

homeostasis/metabolism

abnormal autophagosome formation ( J:246352 )

• neonatal cardiomyocytes exhibit suppression of autophagosome formation following bafilomycin-A1 and chloroquine treatment

impaired autophagy ( J:246352 )

• neonatal cardiomyocytes exhibit suppression of autophagosome formation following bafilomycin-A1 and chloroquine treatment indicating impaired autophagy

mortality/aging

premature death ( J:246352 )

• mice are susceptible to premature death, with only 9% of mice surviving past 20 months of age

cardiovascular system

enlarged heart ( J:246352 )

• cardiac enlargement in 6 month old mice

increased heart weight ( J:246352 )

• heart weight to body weight and heart weight to tibia length ratios are increased at 4 months of age

cardiac fibrosis ( J:246352 )

• severe fibrosis in surviving 6 month old mice

dilated cardiomyopathy ( J:246352 )

decreased cardiac muscle contractility ( J:246352 )

• peak rate of pressure rise and peak rate of pressure decline are reduced as early as 10 weeks of age, indicating early impairment of cardiac contractile function

• single myocyte contraction induced by field stimulation is reduced

• however, the profiles of induced calcium transients, including amplitude and tau, are not affected

abnormal fetal cardiomyocyte physiology ( J:246352 )

• neonatal cardiomyocytes exhibit suppression of autophagosome formation following bafilomycin-A1 and chloroquine treatment indicating impaired autophagy

abnormal heart echocardiography feature ( J:246352 )

• echocardiography shows an age-dependent decrease in left ventricular systolic function, and left ventricle chamber dilation as evidenced by an increase in end-diastolic left ventricle internal diameter and end-systolic left ventricle internal diameter

abnormal myocardial fiber physiology ( J:246352 )

• single myocyte contraction induced by field stimulation is reduced

congestive heart failure ( J:246352 )

cellular

abnormal autophagosome formation ( J:246352 )

• neonatal cardiomyocytes exhibit suppression of autophagosome formation following bafilomycin-A1 and chloroquine treatment

impaired autophagy ( J:246352 )

• neonatal cardiomyocytes exhibit suppression of autophagosome formation following bafilomycin-A1 and chloroquine treatment indicating impaired autophagy

muscle

dilated cardiomyopathy ( J:246352 )

decreased cardiac muscle contractility ( J:246352 )

• peak rate of pressure rise and peak rate of pressure decline are reduced as early as 10 weeks of age, indicating early impairment of cardiac contractile function

• single myocyte contraction induced by field stimulation is reduced

• however, the profiles of induced calcium transients, including amplitude and tau, are not affected

growth/size/body

enlarged heart ( J:246352 )

• cardiac enlargement in 6 month old mice

increased heart weight ( J:246352 )

• heart weight to body weight and heart weight to tibia length ratios are increased at 4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1HH		DOID:0110448	OMIM:613881	J:246352