Search Criteria: Research Area is "Mouse/Human Gene Homologs: glycogen storage disease type II (GSDII)"

JAX^® Mice Strains

Stock Number	Strain Name   Strain Description	Standard Supply
004154	B6;129-Gaatm1Rabn/J	Repository-Cryopreserved
	At birth, mice that are homozygous for the targeted allele are viable, normal in size and do not display any gross physical or behavioral abnormalities. Low levels of transcript are detectable, but functional protein is absent. By 3 weeks of age, light microscopy (PAS staining) reveals a progressive accumulation of lysosomal glycogen in heart and skeletal muscle, and diaphragm. Concomitant with accumulating glycogen is a significant reduction in the number of myofibrils and signs of damaged muscle structure. Reduced mobility and progressive muscle weakness is observed by 3-4 weeks of age. By 8-9 months of age, muscle wasting and weakness are obvious. Adults are fertile. These mice recapitulate key features of glycogen storage disease type II (GSDII) and provide a model for studying the underlying mechanism of GSDII.

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