B6.C-H2-K^bm1/ByBir-Gusb^mps/BrkJ

Stock number: 006559
Product name: MPS VII
Research areas: Developmental Biology Research, Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mutant mice exhibit lysosomal storage disease and may serve as a model for Sly disease in humans.

Detailed description

Mice homozygous for the Gusb^mps 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.

Development

The Gusb^mps mutation arose spontaneously on B6.C-H2^bm1/By in 1976 (Birkenmeier et al., 1989). This strain is derived from JR 000256 (# 000256 ) and cryopreserved as homozygous sperm in 2007.

Allele

Symbol: Gusb^mps
Name: beta glucuronidase, mucopolysaccharidosis VII
MGI accession ID: MGI:1856041
Generation method: Spontaneous
Synonyms: asd; Gus-b; gus^mps; MPS VII
Marker symbol: Gusb
Marker name: glucuronidase, beta
Chromosome: 5
Strain of origin: B6.C-H2-K^bm1/By
Molecular note: A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497.

Allele

Symbol: H2-K^bm1
Name: b haplotype mutation 1
MGI accession ID: MGI:3618114
Generation method: Spontaneous
Synonyms: bm1; H(z1); H-2^bm1; H-2^ba; K^bm1
Marker symbol: H2-K
Marker name: histocompatibility 2, K region
Chromosome: 17
Strain of origin: C57BL/6By
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).
General note: Genbank ID for this allele: X56624