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Phenotypes Associated with This Genotype
Genotype
MGI:5908194
Allelic
Composition
Tg(Myh6-POLG*Y955C)DWcc/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• massive cardiomegaly with massive bilateral atrial enlargement

mortality/aging
• median survival is 90 days

cardiovascular system
• defects in matrix density in hearts
• cardiomyocyte hypertrophy, with multiple cytoplasmic granular figures consistent with mitochondria
• massive bilateral atrial enlargement
• mice exhibit septal thickening
• massive cardiomegaly with massive bilateral atrial enlargement
• mice exhibit ventricular free wall thickening
• increase in cavity dimensions of left and right ventricles
• echocardiography indicates increased left ventricular mass
• cardiomegaly with increased cavity dimensions of left ventricle and right ventricle, and free wall and septal thickening

cellular
• mitochondrial swelling in hearts
• mice exhibit reduced mtDNA abundance, indicating mtDNA deletion in the heart
• mitochondrial cristae dissolution in hearts
• 8-OHdG levels in mtDNA from mitochondria of hearts are elevated 3-fold, indicating mitochondrial oxidative stress

muscle
• cardiomyocyte hypertrophy, with multiple cytoplasmic granular figures consistent with mitochondria
• cardiomegaly with increased cavity dimensions of left ventricle and right ventricle, and free wall and septal thickening

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory