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.Read More +
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.
The Gusmps-2J mutation arose spontaneously in the C3H/HeOuJ (Stock No. 000635) production colony at The Jackson Laboratory (Gwynn et al., 1998). The founder male was identified by a blunter face and shorter, thickened limbs and tail. This strain was maintained by sibling inbreeding and in 2007 sperm were cryopreserved from homozygous males at generation F46.
|Allele Name||beta glucuronidase, mucopolysaccharidosis VII 2 Jackson|
|Gene Symbol and Name||Gusb, glucuronidase, beta|
|Strain of Origin||C3H/HeOuJ|
|Molecular Note||Southern blot analysis showed that this allele is the result of a 5.4kb intracisternal A particle (IAP) transposon insertion near the 3' end of intron 8. Homozygous mice have less than 1% of the normal levels of beta glucuronidase activity.|
|Mutations Made By|| |
Brian Soper, The Jackson Laboratory
When using the mucopolysaccharidosis VII 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003525 in your Materials and Methods section.