Phenotypes Associated with This Genotype

Genotype
MGI:3689004

• Allelic Composition: Tg(Myh6-PRKAG2*R302Q)#Rro/0
• Genetic Background: involves: FVB

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

cardiovascular system

increased cardiac muscle glycogen level ( J:108102 )

• exhibit myocytes accumulating increased glycogen in the myocardium of the right and left ventricles

abnormal myocardial fiber morphology ( J:108102 )

• myocytes exhibit multiple nuclei with great variation in size, indicating hypertrophy

• large vacuoles are abundant throughout the myocardium of the right and left ventricles

• exhibit muscle bundles that extend from the atrium to the ventricle in the region of the fibrous body

enlarged heart ( J:108102 )

increased heart weight ( J:108102 )

• heart weight is nearly 3x that of nontransgenic controls

cardiac hypertrophy ( J:108102 )

• hypertrophic cardiomyoctyes

abnormal cardiovascular system physiology ( J:108102 )

decreased heart ventricle muscle contractility ( J:108102 )

• posterior ventricular wall thickness at 2 months of age is increased and exhibit an increase in end-diastolic diameter and end-systolic diameter with decreased systolic function

increased heart rate ( J:108102 )

• atrial electrical stimulation induced supraventricular tachycardia in 6 of 12 mutants, consistent with orthodromic atrioventricular (AV) reentrant tachycardia characterized by antegrade conduction via the AV node and retrograde conduction over the accessory pathway

• atrial premature beats and/or tachycardia are observed spontaneously or after atrial electrical stimulation in 58% of mutants, however ventricular electrical stimulation does not induce ventricular arrhythmias

abnormal impulse conducting system conduction ( J:108102 )

• 21 of 134 show ventricular preexcitation as evidenced by a short PR interval and a wide QRS, and a significant prolongation of the sinus cycle length with normal sinus node recovery times

• exhibit the presence of a functioning accessory pathway bypassing the atrioventricular (AV) node

shortened PR interval ( J:108102 )

• baseline ECG recordings of 21 of 134 mutants show a short PR interval

prolonged QRS complex duration ( J:108102 )

• baseline ECG recordings of 21 of 134 mutants show increased QRS duration with slurred upstroke

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:108102 )

• exhibit myocytes accumulating increased glycogen in the myocardium of the right and left ventricles

muscle

increased cardiac muscle glycogen level ( J:108102 )

• exhibit myocytes accumulating increased glycogen in the myocardium of the right and left ventricles

abnormal myocardial fiber morphology ( J:108102 )

• myocytes exhibit multiple nuclei with great variation in size, indicating hypertrophy

• large vacuoles are abundant throughout the myocardium of the right and left ventricles

• exhibit muscle bundles that extend from the atrium to the ventricle in the region of the fibrous body

decreased heart ventricle muscle contractility ( J:108102 )

• posterior ventricular wall thickness at 2 months of age is increased and exhibit an increase in end-diastolic diameter and end-systolic diameter with decreased systolic function

growth/size/body

enlarged heart ( J:108102 )

increased heart weight ( J:108102 )

• heart weight is nearly 3x that of nontransgenic controls

cardiac hypertrophy ( J:108102 )

• hypertrophic cardiomyoctyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolff-Parkinson-White syndrome		DOID:384	OMIM:194200	J:108102