Gaa (glucosidase, alpha, acid) encodes a lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Loss of GAA is associated with the glycogen storage disease type II (Pompe disease - PD) a severe metabolic myopathy. GAA-/- knockout mice have a neomycin cassette inserted in exon 6 resulting in a null allele. Mice homozygous for the knockout develop progressive myopathy and increased glycogen levels in brain and cardiac and skeletal muscle.Map1lc3b (microtubule-associated protein 1 light chain 3 beta or LC3b) encodes a subunit of the neuronal microtubule-associated MAP1A and MAP1B proteins. MAP1A/B is involved in microtubule assembly and autophagy. GFP:LC3 transgenic mice express a GFP reporter that labels autophagosomes under the control of the widespread CAG promoter. The reporter allows visualization of autophagic accumulation in live myofibers without staining.The combination of the two alleles, GFP:LC3-GAA-/-, creates a mouse model that can be used to evaluate autophagic accumulation and test therapeutic targets such as transcription factor EB (TFEB). Mice homozygous for both alleles are viable and fertile, however homozygous mating produce small litter sizes. GFP:LC3-GAA-/- mice develop muscle weakness and wasting at 7-9 months of age.

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GFP:LC3-GAA-/- mice carry a null allele (neo inserted into exon 6) of Gaa (glucosidase, alpha, acid) and express an EGFP reporter fused to Map1lc3b (microtubule-associated protein 1 light chain 3 beta or LC3b). The reporter labels autophagosomes in a mouse model of glycogen storage disease type II (Pompe disease). This strain maybe useful in studies of lysosomal and autophagic abnormalities and lysosomal storage disorders.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.