Phenotypes Associated with This Genotype

Genotype
MGI:3619140

• Allelic Composition: Gaa^tm1Vdp/Gaa^tm1Vdp
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

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

cardiovascular system

abnormal heart morphology ( J:45386 )

• at 32 weeks, homozygotes exhibit a round, swollen and pale heart relative to the smaller, oval and darker stained heart of wild-type mice

abnormal myocardial fiber morphology ( J:45386 )

• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers

globular heart ( J:45386 )

• at 32 weeks of age, the heart is round rather than oval

enlarged heart ( J:45386 )

• at 32 weeks, homozygotes display cardiac enlargement

heart left ventricle hypertrophy ( J:45386 )

heart right ventricle hypertrophy ( J:45386 )

dilated heart left ventricle ( J:45386 )

dilated heart right ventricle ( J:45386 )

abnormal impulse conducting system conduction ( J:45386 )

abnormal QRS complex ( J:45386 )

• at 32 weeks, several homozygotes display an abnormal electrocardiogram with a high voltage QRS complex

cardiomyopathy ( J:45386 )

• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms

growth/size/body

enlarged heart ( J:45386 )

• at 32 weeks, homozygotes display cardiac enlargement

heart left ventricle hypertrophy ( J:45386 )

heart right ventricle hypertrophy ( J:45386 )

homeostasis/metabolism

abnormal glycogen homeostasis ( J:45386 )

• at P8, homozygotes display generalized and progressive glycogen storage, with glycogen-containing lysosomes detected in liver, heart and skeletal muscle cells, smooth muscle cells of blood vessels, Schwann cells, and anterior horn cells

muscle

abnormal myocardial fiber morphology ( J:45386 )

• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers

heart left ventricle hypertrophy ( J:45386 )

heart right ventricle hypertrophy ( J:45386 )

cardiomyopathy ( J:45386 )

• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms

abnormal skeletal muscle fiber morphology ( J:45386 )

• at 6 weeks, homozygotes display large glycogen-containing lysosomes in between and parallel to the fibrils of the femoral and sural muscles, triceps and skeletal muscle of the tongue; more numerous focal deposits of glycogen are detected by 13 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease II		DOID:2752	OMIM:232300	J:45386