Phenotypes Associated with This Genotype

Genotype
MGI:5905050

• Allelic Composition: Tg(Myh6-Gnaq*Q209L)44Ejne/Tg(Myh6-Gnaq*Q209L)44Ejne
• Genetic Background: involves: FVB

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

homeostasis/metabolism

abnormal atrial thrombosis ( J:127756 )

• left atria often contains thombi

mortality/aging

premature death ( J:127756 )

• mice die prematurely at 12-14 months of age

cardiovascular system

abnormal myocardial fiber morphology ( J:127756 )

• enlarged cardiac myocytes contain big hyperchromatic nuclei, intracellular vacuolization, and interstitial fibrosis

increased myocardial fiber size ( J:127756 )

increased heart right atrium weight ( J:127756 )

• the right atrial weight is elevated by 12 months of age

increased heart left atrium size ( J:127756 )

• the left atria is enlarged by 12 months of age and left atrial diameter is increased by about 50%

abnormal heart ventricles weight ( J:127756 )

• the ventricular weight/body weight ratio is increased

• a group of 12-14 month old mice exhibit dilated ventricles and increased ventricle weight

dilated heart ventricle ( J:127756 )

• a group of 12-14 month old mice exhibit dilated ventricles and increased ventricle weight while a subset of mice at this age do not show increased ventricular mass and dilation

cardiac interstitial fibrosis ( J:127756 )

• enlarged cardiac myocytes exhibit interstitial fibrosis

dilated cardiomyopathy ( J:127756 )

• the 4 chambers of 12.5 month old hearts are enlarged

• age of onset of dilated cardiomyopathy ranges between 11 and 13 months of age and the phenotype progresses to end-stage dilation with a concomitant reduction in fractional shortening within 2-3 months

• however, left ventricular wall thickness remains unchanged indicating no initial hypertrophic response

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 12-14 months of age

decreased heart rate ( J:127756 )

• heart rates are slower in anaesthetized mice and in conscious mice during blood pressure recordings

congestive heart failure ( J:127756 )

• mice show signs of left and right heart failure at end-stage

muscle

abnormal myocardial fiber morphology ( J:127756 )

• enlarged cardiac myocytes contain big hyperchromatic nuclei, intracellular vacuolization, and interstitial fibrosis

increased myocardial fiber size ( J:127756 )

dilated cardiomyopathy ( J:127756 )

• the 4 chambers of 12.5 month old hearts are enlarged

• age of onset of dilated cardiomyopathy ranges between 11 and 13 months of age and the phenotype progresses to end-stage dilation with a concomitant reduction in fractional shortening within 2-3 months

• however, left ventricular wall thickness remains unchanged indicating no initial hypertrophic response

decreased cardiac muscle contractility ( J:127756 )

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

cellular

cardiac interstitial fibrosis ( J:127756 )

• enlarged cardiac myocytes exhibit interstitial fibrosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:127756