These mice carry the mouse mucopolysaccharidosis VII mutation on a C57BL/6J with a dominant spotting genetic background and exhibit lysosomal storage disease. They may serve as a model for Sly disease in humans.
Brian Soper, The Jackson Laboratory
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 |
---|---|---|
Spontaneous | Kit | KIT proto-oncogene receptor tyrosine kinase |
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. In appearance, homozygous KitW-41J mice are mostly white with black eyes and brown or grey spots. They are fertile, distinct from mice with other alleles of Kit, and have the impaired hemopoiesis causing mild, normochromic, macrocytic anemia. 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. This strain, with combined KitW-41J and Gusbmps, provides a genetically myeloablated population in which to study stem cell engraftment and reconstitution.
This double mutant was generated by crossing B6.C-H2bm1/ByBir-Gusbmps/J (Stock No. 000256) and C57BL/6J-KitW-41J/J (Stock No. 000119). Progeny selected for the appropriate alleles were backcrossed to C57BL/6J-KitW-41J/J (Stock No. 000119) for 10 generations by Dr. Jane Barker at The Jackson Laboratory. The strain was donated to the Repository 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 | dominant spotting 41 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | KitW41; W41; W-41 |
Gene Symbol and Name | Kit, KIT proto-oncogene receptor tyrosine kinase |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 5 |
Molecular Note | Comparison of the coding sequence of this allele with normal c-kit indicated a G-to-A point mutation in the kinase domain at nucleotide 2519 that results in a valine to methionine substitution at amino acid 831 (p.V831M). |
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygous Gusbmps females do not lactate. Homozygous Gusbmps males do not breed.
When using the W41 MPS VII mouse strain in a publication, please cite the originating article(s) and include JAX stock #006564 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for Kit<W-41J>, Heterozygous or Wild-type 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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