Mouse Genome Informatics
tg
    Tg(Myh6-PRKAG2*N488I)4623Jse/0
involves: FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• in response to stress due to cardiac dysfunction
• 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
• the annulus fibrosis that insulates the atria from the ventricles is thinned, stretched, and disrupted unlike in wild-type mice
• distended myocytes are filled with glycogen unlike in wild-type mice
• at 8 to 10 weeks and 20 weeks
• left ventricular wall
• 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
• mice exhibit spontaneous episodes of sinus bradycardia and various escape rhythms, including paroxysmal supraventricular tachycardia and atrial fibrillation unlike in wild-type mice
• 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
• mice exhibit preexcitation unlike in wild-type mice
• PR interval is shortened in 50% of mice
• in response to stress, mice exhibit syncope that led to death that is associated with severe and persistent sinus brachycardia unlike wild-type mice

homeostasis/metabolism
• in response to stress, mice exhibit syncope that led to death that is associated with severe and persistent sinus brachycardia unlike wild-type mice
• cardiac glycogen levels are higher than in wild-type mice

muscle
• distended myocytes are filled with glycogen unlike in wild-type mice
• 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
OMIM IDRef(s)
Cardiomyopathy, Familial Hypertrophic, 6; CMH6 600858 J:128648