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Phenotypes Associated with This Genotype
Genotype
MGI:5559168
Allelic
Composition
Tg(Myh6-Gnaq*Q209L)52Ejne/?
Genetic
Background
involves: FVB
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No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype

Gross and microscopic pathology of hearts from Tg(Myh6-Gnaq*Q209L)52Ejne/? mice

mortality/aging
• die between 8 and 30 weeks of age, often with pulmonary congestion and with massive cardiac dilatation and hypertrophy (J:204274)

cardiovascular system
• intense hepatic congestion is seen in some mice, occasionally with early centrolobular necrosis
• atria show thickened trabeculae
• cardiomyocytes of the hypertrophied, dilated ventricles are enlarged with big hyperchromatic nuclei
• cardiomyocytes of the hypertrophied, dilated ventricles show degenerative changes including intracellular vacuolization
• increase in atrium weight at 4 and 10 weeks of age
• dilated atria with wall thinning
• by 4 weeks of age, the ventricular weight/body weight and atrial weight/body weight ratios are increased
• by 10 weeks, massive enlargement and dilatation of all four heart chambers is seen
• mice treated with cyclosporin at 17 or 18 days of age until 6.5 weeks of age do not show prevention of myocardial hypertrophy, although some aspects of the hypertrophy are blunted
• ventricular weight/body weight ratio is increased to 121% of wild-type at 10 weeks of age (J:204274)
• diffuse atrial and ventricular fibrosis
• diffuse interstitial fibrosis
• however, no evidence of myocyte disarray, necrosis, or myocarditis
• mice die between 2 and 7 months of age with massive cardiac dilatation and hypertrophy (J:204274)
• decrease in cardiac output in response to development of dilation
• decrease in systolic contractile function, with a reduction in fractional shortening below 15%
• M-mode and echocardiography show increases in left ventricular end-systolic and end-diastolic diameters at 3-4 months of age

liver/biliary system
• intense hepatic congestion is seen in some mice, occasionally with early centrolobular necrosis

muscle
• atria show thickened trabeculae
• cardiomyocytes of the hypertrophied, dilated ventricles are enlarged with big hyperchromatic nuclei
• cardiomyocytes of the hypertrophied, dilated ventricles show degenerative changes including intracellular vacuolization
• mice treated with cyclosporin at 17 or 18 days of age until 6.5 weeks of age do not show prevention of myocardial hypertrophy, although some aspects of the hypertrophy are blunted
• mice die between 2 and 7 months of age with massive cardiac dilatation and hypertrophy (J:204274)
• decrease in systolic contractile function, with a reduction in fractional shortening below 15%

respiratory system
• increase in lung weight/body weight ratio

homeostasis/metabolism
• atrial thrombi in various stages of organization are seen by 10 weeks of age
• phospholipase C activity in the left and right atria is increased 9- and 10-fold over controls at 2 weeks of age, however only a minimal rise is seen in the ventricles and by 10 weeks, activity is increased in both the atria and ventricles

growth/size/body
• by 4 weeks of age, the ventricular weight/body weight and atrial weight/body weight ratios are increased
• by 10 weeks, massive enlargement and dilatation of all four heart chambers is seen
• mice treated with cyclosporin at 17 or 18 days of age until 6.5 weeks of age do not show prevention of myocardial hypertrophy, although some aspects of the hypertrophy are blunted
• increase in lung weight/body weight ratio

cellular
• diffuse interstitial fibrosis
• however, no evidence of myocyte disarray, necrosis, or myocarditis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy DOID:12930 OMIM:PS115200
J:204274


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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
03/19/2024
MGI 6.23
The Jackson Laboratory