Phenotypes Associated with This Genotype

Genotype
MGI:5559168

• Allelic Composition: Tg(Myh6-Gnaq*Q209L)52Ejne/?
• Genetic Background: involves: FVB

• ♀: 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

premature death ( J:127756 , J:204274 )

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

cardiovascular system

liver vascular congestion ( J:204274 )

• intense hepatic congestion is seen in some mice, occasionally with early centrolobular necrosis

pulmonary vascular congestion ( J:204274 )

abnormal atrium myocardial trabeculae morphology ( J:204274 )

• atria show thickened trabeculae

increased myocardial fiber size ( J:204274 )

• cardiomyocytes of the hypertrophied, dilated ventricles are enlarged with big hyperchromatic nuclei

myocardial fiber degeneration ( J:204274 )

• cardiomyocytes of the hypertrophied, dilated ventricles show degenerative changes including intracellular vacuolization

abnormal heart atria weight ( J:204274 )

• increase in atrium weight at 4 and 10 weeks of age

dilated heart atrium ( J:204274 )

• dilated atria with wall thinning

cardiac hypertrophy ( J:204274 )

• 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

myocardium hypertrophy ( J:204274 )

• 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

abnormal heart ventricles weight ( J:127756 , J:204274 )

• ventricular weight/body weight ratio is increased to 121% of wild-type at 10 weeks of age (J:204274)

dilated heart ventricle ( J:204274 )

cardiac fibrosis ( J:204274 )

• diffuse atrial and ventricular fibrosis

cardiac interstitial fibrosis ( J:204274 )

• diffuse interstitial fibrosis

• however, no evidence of myocyte disarray, necrosis, or myocarditis

dilated cardiomyopathy ( J:127756 , J:204274 )

• mice die between 2 and 7 months of age with massive cardiac dilatation and hypertrophy (J:204274)

decreased cardiac output ( J:127756 )

• decrease in cardiac output in response to development of dilation

decreased cardiac muscle contractility ( J:127756 )

• decrease in systolic contractile function, with a reduction in fractional shortening below 15%

abnormal heart echocardiography feature ( J:127756 )

• M-mode and echocardiography show increases in left ventricular end-systolic and end-diastolic diameters at 3-4 months of age

liver/biliary system

liver vascular congestion ( J:204274 )

• intense hepatic congestion is seen in some mice, occasionally with early centrolobular necrosis

muscle

abnormal atrium myocardial trabeculae morphology ( J:204274 )

• atria show thickened trabeculae

increased myocardial fiber size ( J:204274 )

• cardiomyocytes of the hypertrophied, dilated ventricles are enlarged with big hyperchromatic nuclei

myocardial fiber degeneration ( J:204274 )

• cardiomyocytes of the hypertrophied, dilated ventricles show degenerative changes including intracellular vacuolization

myocardium hypertrophy ( J:204274 )

• 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

dilated cardiomyopathy ( J:127756 , J:204274 )

• mice die between 2 and 7 months of age with massive cardiac dilatation and hypertrophy (J:204274)

decreased cardiac muscle contractility ( J:127756 )

• decrease in systolic contractile function, with a reduction in fractional shortening below 15%

respiratory system

pulmonary vascular congestion ( J:204274 )

increased lung weight ( J:204274 )

• increase in lung weight/body weight ratio

homeostasis/metabolism

abnormal atrial thrombosis ( J:204274 )

• atrial thrombi in various stages of organization are seen by 10 weeks of age

abnormal enzyme/coenzyme activity ( J:204274 )

• 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

cardiac hypertrophy ( J:204274 )

• 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

myocardium hypertrophy ( J:204274 )

• 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

increased lung weight ( J:204274 )

• increase in lung weight/body weight ratio

cellular

cardiac interstitial fibrosis ( J:204274 )

• 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