These mutant mice exhibit lysosomal storage disease and may serve as a model for Sly disease in humans.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Gusb | glucuronidase, beta |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | H2-K | histocompatibility 2, K region |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | asd; gusmps; Gus-b; MPS VII |
Gene Symbol and Name | Gusb, glucuronidase, beta |
Gene Synonym(s) | |
Strain of Origin | B6.C-H2-Kbm1/By |
Chromosome | 5 |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | bm1; H(z1); H-2ba; H-2bm1; Kbm1 |
Gene Symbol and Name | H2-K, histocompatibility 2, K region |
Gene Synonym(s) | |
Strain of Origin | C57BL/6By |
Chromosome | 17 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Gusb<mps> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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