Phenotypes Associated with This Genotype

Genotype
MGI:5908194

• Allelic Composition: Tg(Myh6-POLG*Y955C)DWcc/0
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:122507 )

• median survival is 90 days

cardiovascular system

abnormal heart morphology ( J:122507 )

• defects in matrix density in hearts

abnormal myocardial fiber morphology ( J:122507 )

• myocytolysis

abnormal myocardial fiber mitochondrial morphology ( J:122507 )

• mitochondrial swelling in hearts

decreased myocardial fiber mitochondrial DNA content ( J:122507 )

• mice exhibit reduced mtDNA abundance, indicating mtDNA deletion in the heart

increased myocardial fiber size ( J:122507 )

• cardiomyocyte hypertrophy, with multiple cytoplasmic granular figures consistent with mitochondria

increased heart atrium size ( J:122507 )

• massive bilateral atrial enlargement

thick interventricular septum ( J:122507 )

• mice exhibit septal thickening

enlarged heart ( J:122507 )

• massive cardiomegaly with massive bilateral atrial enlargement

increased heart ventricle size ( J:122507 )

• increase in cavity dimensions of left and right ventricles

thick ventricular wall ( J:122507 )

• mice exhibit ventricular free wall thickening

abnormal heart echocardiography feature ( J:122507 )

• echocardiography indicates increased left ventricular mass

cardiomyopathy ( J:122507 )

• cardiomegaly with increased cavity dimensions of left ventricle and right ventricle, and free wall and septal thickening

congestive heart failure ( J:122507 )

cellular

abnormal myocardial fiber mitochondrial morphology ( J:122507 )

• mitochondrial swelling in hearts

decreased myocardial fiber mitochondrial DNA content ( J:122507 )

• mice exhibit reduced mtDNA abundance, indicating mtDNA deletion in the heart

abnormal mitochondrial crista morphology ( J:122507 )

• mitochondrial cristae dissolution in hearts

oxidative stress ( J:122507 )

• 8-OHdG levels in mtDNA from mitochondria of hearts are elevated 3-fold, indicating mitochondrial oxidative stress

muscle

abnormal myocardial fiber morphology ( J:122507 )

• myocytolysis

abnormal myocardial fiber mitochondrial morphology ( J:122507 )

• mitochondrial swelling in hearts

decreased myocardial fiber mitochondrial DNA content ( J:122507 )

• mice exhibit reduced mtDNA abundance, indicating mtDNA deletion in the heart

increased myocardial fiber size ( J:122507 )

• cardiomyocyte hypertrophy, with multiple cytoplasmic granular figures consistent with mitochondria

cardiomyopathy ( J:122507 )

• cardiomegaly with increased cavity dimensions of left ventricle and right ventricle, and free wall and septal thickening

growth/size/body

enlarged heart ( J:122507 )

• massive cardiomegaly with massive bilateral atrial enlargement

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:122507