Phenotypes Associated with This Genotype

Genotype
MGI:3688834

• Allelic Composition: Tg(Myh6-PRKAG2*R531G)22Dca/0
• Genetic Background: involves: C57BL/10 * CBA/Ca

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

mortality/aging

premature death ( J:108517 )

• exhibit increased spontaneous mortality, beginning around 7-8 weeks of age, that is more pronounced in males than females

cardiovascular system

increased cardiac muscle glycogen level ( J:108517 )

• hearts show accumulation of glycogen; glycogen levels in hearts are nearly 40-fold and 80-fold higher at 4 and 8 weeks of age, respectively, compared to controls

enlarged heart ( J:108517 )

increased heart weight ( J:108517 )

• heart weight is increased from 4 weeks of age

cardiac hypertrophy ( J:108517 )

• exhibit an approximately 3-fold increase in the ratio of heart weight to body weight

abnormal cardiovascular system physiology ( J:108517 )

decreased cardiac output ( J:108517 )

decreased cardiac stroke volume ( J:108517 )

• stroke volume is decreased

decreased heart left ventricle muscle contractility ( J:108517 )

• exhibit an increase in left ventricular mass, end-diastolic volume, and end-systolic volume and a decrease in ejection fraction

abnormal impulse conducting system conduction ( J:108517 )

• electrical conduction abnormalities are indicative of ventricular preexcitation similar to that seen in Wolff-Parkinson-White syndrome

shortened PR interval ( J:108517 )

• exhibit a significant shortening of the PR interval

prolonged QRS complex duration ( J:108517 )

• exhibit QRS widening

homeostasis/metabolism

abnormal glycogen homeostasis ( J:108517 )

• glycogen in hearts is less branched than in controls

increased cardiac muscle glycogen level ( J:108517 )

• hearts show accumulation of glycogen; glycogen levels in hearts are nearly 40-fold and 80-fold higher at 4 and 8 weeks of age, respectively, compared to controls

muscle

increased cardiac muscle glycogen level ( J:108517 )

• hearts show accumulation of glycogen; glycogen levels in hearts are nearly 40-fold and 80-fold higher at 4 and 8 weeks of age, respectively, compared to controls

decreased heart left ventricle muscle contractility ( J:108517 )

• exhibit an increase in left ventricular mass, end-diastolic volume, and end-systolic volume and a decrease in ejection fraction

growth/size/body

enlarged heart ( J:108517 )

increased heart weight ( J:108517 )

• heart weight is increased from 4 weeks of age

cardiac hypertrophy ( J:108517 )

• exhibit an approximately 3-fold increase in the ratio of heart weight to body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolff-Parkinson-White syndrome		DOID:384	OMIM:194200	J:108517