Mice homozygous for the Gusmps-2J allele exhibit a phenotype similar to Gusmps homozygotes including skeletal deformities, lysosomal storage disease and elevated levels of the lysosomal enzymes alpha-galactosidase and beta-hexosaminidase (Gwynn et al., 1998). Like the Gusmps heterozygote, Gusmps-2J heterozygotes have a 26-85% reduction in beta-glucuronidase activity. depending on tissue type (Gwynn et al., 1998, Birkenmeier et al., 1989). Homozygotes of both alleles have beta-glucuronidase activity levels at 1% of the control level. Unlike the Gusmps homozygote, Gusmps-2J homozygotes live longer, are fertile and can raise litters to weaning age (Gwynn et al., 1998). In addition to a difference in the nature of the mutations between these two alleles, it is also likely that the phenotypic differences are the result of strain background. C3H/HeOuJ mice carry a different set of alleles at the Gus complex than C57BL/6J mice. Beta-glucuronidase activity in C3H/HeOuJ mice is 10-38% that of C57BL/6J mice (Gwynn et al., 1998). The Gus complex alleles determine the rate of enzyme synthesis and may modulate the expression of the beta-glucuronidase deficiency. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII.

These mice carry a spontaneous, recessive mutation at the Gus locus characterized by skeletal deformities, lysosomal storage disease and elevated levels of the lysosomal enzymes alpha-galactosidase and beta-hexosaminidase.

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