Mice homozygous for the Gusbmps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. Female homozygotes rarely conceive and do not lactate. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII.
The Gusbmps mutation arose spontaneously on B6.C-H2bm1/By in 1976 (Birkenmeier et al., 1989). This strain is derived from JR 000256 (# 000256 ) and cryopreserved as homozygous sperm in 2007.
|Allele Name||beta glucuronidase, mucopolysaccharidosis VII|
|Allele Synonym(s)||asd; gusmps; Gus-b; MPS VII|
|Gene Symbol and Name||Gusb, glucuronidase, beta|
|Strain of Origin||B6.C-H2-Kbm1/By|
|Molecular Note||A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497.|
|Mutations Made By|| |
Brian Soper, The Jackson Laboratory
|Allele Name||b haplotype mutation 1|
|Allele Synonym(s)||bm1; H(z1); H-2ba; H-2bm1; Kbm1|
|Gene Symbol and Name||H2-K, histocompatibility 2, K region|
|Strain of Origin||C57BL/6By|
|General Note||Genbank ID for this allele: X56624|
|Molecular Note||The bm1 mutation contains 7 nucleotide differences resulting in amino acid substitutions at codon 152 (glutamate to alanine), codon 155 (arginine to tyrosine) and codon 156 (leucine to tyrosine).|
When using the MPS VII mouse strain in a publication, please cite the originating article(s) and include JAX stock #006559 in your Materials and Methods section.