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Phenotypes Associated with This Genotype
Genotype
MGI:3619140
Allelic
Composition
Gaatm1Vdp/Gaatm1Vdp
Genetic
Background
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1Vdp mutation (0 available); any Gaa mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers
• at 32 weeks, homozygotes exhibit a round, swollen and pale heart relative to the smaller, oval and darker stained heart of wild-type mice
• at 32 weeks, homozygotes display cardiac enlargement
• at 32 weeks, several homozygotes display an abnormal electrocardiogram with a high voltage QRS complex
• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms

homeostasis/metabolism
• 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
• at 13 weeks, homozygotes display large glycogen-containing lysosomes in heart muscle fibers
• at 9 months, homozygotes are viable and fertile but exhibit signs of a developing cardiomyopathy in the absence of overt clinical symptoms
• 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
OMIM ID Ref(s)
Glycogen Storage Disease II; GSD2 232300 J:45386


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory