These mice carry a spontaneous intragenic deletion in the Gusb gene resulting in the failure to express the lysosomal enzyme beta glucuronidase. They exhibit various skeletal and connective tissue anomalies and are useful in studies of lysosomal storage diseases.
Brian Soper, The Jackson Laboratory
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Gusb | glucuronidase, beta |
Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. These mice have the H2b haplotype typical of inbred C57BL/6 mice. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases.
A spontaneous point mutation within exon 10 of the beta glucuronidase gene created a frameshift mutation that results in a premature stop codon. This mutation (called mucopolysaccharidosis type VII or MPS VII) arose in B6.C-H2bm1/ByBir-Gusbmps/J mice (Stock No. 000256). Mutants have been backcrossed with C57BL/6J (Stock No. 000664) mice for at least 10 generations by Dr. Jane Barker at The Jackson Laboratory.
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 |
When maintaining a live colony, heterozygous mice are bred together. Mice homozygous for this recessive mutation are viable, but exhibit breeding problems.
When using the B6.MPS VII-H2b mouse strain in a publication, please cite the originating article(s) and include JAX stock #006407 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Gusb<mps> |
Frozen Mouse Embryo | B6.Cg-Gusb<mps>/BrkJ | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Gusb<mps>/BrkJ | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Gusb<mps>/BrkJ | $3373.50 |
Frozen Mouse Embryo | B6.Cg-Gusb<mps>/BrkJ | $3373.50 |
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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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