Mouse Genome Informatics
hm
    Gaatm1Vdp/Gaatm1Vdp
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Glycogen Storage Disease II; GSD2 232300 J:45386