Phenotypes Associated with This Genotype

Genotype
MGI:3841175

• Allelic Composition: Tg(Myh6-PRKAG2*N488I)4623Jse/0
• Genetic Background: involves: FVB

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

growth/size/body

increased heart weight ( J:128648 )

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:128648 )

• in response to stress due to cardiac dysfunction

premature death ( J:128648 )

• at 20 to 40 weeks, mice exhibit spontaneous mortality associated with severe left ventricular dysfunction unlike wild-type mice

• all mice die by day 300

cardiovascular system

increased cardiac muscle glycogen level ( J:128648 )

• cardiac glycogen levels are higher than in wild-type mice

abnormal heart morphology ( J:128648 )

• the annulus fibrosis that insulates the atria from the ventricles is thinned, stretched, and disrupted unlike in wild-type mice

increased myocardial fiber size ( J:128648 )

• distended myocytes are filled with glycogen unlike in wild-type mice

increased heart weight ( J:128648 )

increased heart left ventricle weight ( J:128648 )

• at 8 to 10 weeks and 20 weeks

thick ventricular wall ( J:128648 )

• left ventricular wall

decreased heart left ventricle muscle contractility ( J:128648 )

• at 8 to 10 weeks and 20 weeks, fractional shortening is decreased and left ventricular end-diastolic diameter is increased compared to in wild-type mice

abnormal heart rate ( J:128648 )

• mice exhibit spontaneous episodes of sinus bradycardia and various escape rhythms, including paroxysmal supraventricular tachycardia and atrial fibrillation unlike in wild-type mice

decreased heart rate ( J:128648 )

• at 8 to 10 weeks, mice exhibit decreased heart rate compared to in wild-type mice

• mice exhibit severe sinus bradycardia before death unlike wild-type mice

• however, heart rate at 20 weeks is normal

sinus bradycardia ( J:128648 )

atrial fibrillation ( J:128648 )

abnormal impulse conducting system conduction ( J:128648 )

• mice exhibit preexcitation unlike in wild-type mice

shortened PR interval ( J:128648 )

• PR interval is shortened in 50% of mice

increased response of heart to induced stress ( J:128648 )

• in response to stress, mice exhibit syncope that led to death that is associated with severe and persistent sinus brachycardia unlike wild-type mice

syncope ( J:128648 )

• stress (induction of anesthesia and/or manipulation) results in syncope and leads to sudden death

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:128648 )

• cardiac glycogen levels are higher than in wild-type mice

increased response of heart to induced stress ( J:128648 )

• in response to stress, mice exhibit syncope that led to death that is associated with severe and persistent sinus brachycardia unlike wild-type mice

muscle

increased cardiac muscle glycogen level ( J:128648 )

• cardiac glycogen levels are higher than in wild-type mice

increased myocardial fiber size ( J:128648 )

• distended myocytes are filled with glycogen unlike in wild-type mice

decreased heart left ventricle muscle contractility ( J:128648 )

• at 8 to 10 weeks and 20 weeks, fractional shortening is decreased and left ventricular end-diastolic diameter is increased compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 6		DOID:0110312	OMIM:600858	J:128648