Phenotypes Associated with This Genotype

Genotype
MGI:4818886

• Allelic Composition: Tg(Myh6-PRKAG2*T400N)1Feah/0
• Genetic Background: involves: FVB/N

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

cardiovascular system

increased cardiac muscle glycogen level ( J:123005 )

• between 1 to 8 weeks, myocytes exhibit increased glycogen levels compared with wild-type cells

• however, glycogen levels revert towards wild-type levels by 20 weeks of age

abnormal myocardial fiber morphology ( J:123005 )

• myocytes exhibit large vacuoles filled with glycogen unlike in wild-type cells

increased heart weight ( J:123005 )

• beginning at 1 week of age

• 4 times wild-type at 4 weeks

abnormal heart left ventricle morphology ( J:123005 )

• beginning at 4 weeks, mice exhibit increased left ventricular anterior wall thickness (LVAWT) compared with wild-type mice

• LVAWT reaches maximum at 8 weeks and progressively declines until 20 weeks

• beginning at 12 weeks, left ventricular end diastolic diameter is increased compared to in wild-type mice

dilated heart left ventricle ( J:123005 )

decreased heart ventricle muscle contractility ( J:123005 )

• beginning at 12 weeks, mice exhibit decreased fractional shortening compared with wild-type mice

• at 20 weeks, fractional shortening is reduced one third compared to in wild-type mice

abnormal impulse conducting system conduction ( J:123005 )

• mice exhibit ventricular preexcitation indicated by the presence of delta waves, a short PR interval, and a wide QRS compared with wild-type mice

shortened PR interval ( J:123005 )

prolonged QRS complex duration ( J:123005 )

increased response of heart to induced stress ( J:123005 )

• following ischemia-reperfusion injury, mice exhibit a larger area of necrosis, increased apoptosis, and greater neutrophil infiltration compared with similarly treated wild-type mice

increased myocardial infarct size ( J:123005 )

• following ischemia-reperfusion injury

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:123005 )

• between 1 to 8 weeks, myocytes exhibit increased glycogen levels compared with wild-type cells

• however, glycogen levels revert towards wild-type levels by 20 weeks of age

increased response of heart to induced stress ( J:123005 )

• following ischemia-reperfusion injury, mice exhibit a larger area of necrosis, increased apoptosis, and greater neutrophil infiltration compared with similarly treated wild-type mice

increased myocardial infarct size ( J:123005 )

• following ischemia-reperfusion injury

muscle

increased cardiac muscle glycogen level ( J:123005 )

• between 1 to 8 weeks, myocytes exhibit increased glycogen levels compared with wild-type cells

• however, glycogen levels revert towards wild-type levels by 20 weeks of age

abnormal myocardial fiber morphology ( J:123005 )

• myocytes exhibit large vacuoles filled with glycogen unlike in wild-type cells

decreased heart ventricle muscle contractility ( J:123005 )

• beginning at 12 weeks, mice exhibit decreased fractional shortening compared with wild-type mice

• at 20 weeks, fractional shortening is reduced one third compared to in wild-type mice

growth/size/body

increased heart weight ( J:123005 )

• beginning at 1 week of age

• 4 times wild-type at 4 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lethal congenital glycogen storage disease of heart		DOID:0090101	OMIM:261740	J:162180