Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6.C3-Gusbmps-2J/SopJ    (Changed: 25-JAN-07 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6J Donor Strain C3H/HeOuJ H2 Haplotype b Generation N10F15pN1 Generation Definitions   Donating Investigator Brian Soper,   The Jackson Laboratory

Description
Mice homozygous for the Gus^mps-2J allele exhibit a phenotype similar to Gus^mps homozygotes including skeletal deformities, lysosomal storage disease and elevated levels of the lysosomal enzymes alpha-galactosidase and beta-hexosaminidase (Gwynn et al., 1998). Like the Gus^mps heterozygote, Gus^mps-2J heterozygotes have a 26-85% reduction in beta-glucuronidase activity. depending on tissue type (Gwynn et al., 1998, Birkenmeier et al., 1989). Homozygotes of both alleles have beta-glucuronidase activity levels at 1% of the control level. Unlike the Gus^mps homozygote, Gus^mps-2J homozygotes on the C3H background live longer, are fertile and can raise litters to weaning age (Gwynn et al., 1998). In addition to a difference in the nature of the mutations between these two alleles, it is also likely that the phenotypic differences are the result of strain background. C3H/HeOuJ mice carry a different set of alleles at the Gus complex than C57BL/6J mice. Beta-glucuronidase activity in C3H/HeOuJ mice is 10-38% that of C57BL/6J mice (Gwynn et al., 1998). The Gus complex alleles determine the rate of enzyme synthesis and may modulate the expression of the beta-glucuronidase deficiency. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described.

Development
The Gus^mps-2J mutation arose spontaneously in the C3H/HeOuJ (Stock No. 000651) production colony at The Jackson Laboratory (Gwynn et al., 1998). The founder male was identified by a blunter face and shorter, thickened limbs and tail. The mutation was backcrossed to C57BL/6J for 10 generations in the laboratory of staff scientist Dr. Jane Barker. This strain was donated to the Repository in 2006.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Gusb^mps-2J allele

003525

C3H/HeOuJ-Gusbmps-2J/BrkJ

View Strains carrying   Gusb^mps-2J     (1 strain)

Strains carrying other alleles of Gusb

006564	B6(C)-KitW-41J Gusbmps/BrkJ
005643	B6.129X-Gusbtm1Sly/J
005644	B6.129X-Gusbtm3Sly/J
001603	B6.A-Gusba/J
006559	B6.C-H2-Kbm1/ByBir-Gusbmps/BrkJ
000256	B6.C-H2-Kbm1/ByBir-Gusbmps/J
001598	B6.C3-Gusbh/J
001599	B6.CAST-Gusbcs/J
006562	B6.CBy(Cg)-Gusbmps Gpi1a-m1J/BrkJ
001604	B6.Cg-Ces1cb Ces1eh Gusbh/J
002086	B6.Cg-Gusbmps Tg(Gussx)1Wat/J
006407	B6.Cg-Gusbmps/BrkJ
001605	B6.Cg-Gusbw12/CvJ
001608	B6.Cg-Gusbw26/CvJ
001602	B6.MOR-Gusbw5/CvJ
001597	B6.PAC-Gusbn/J
005322	C57BL/6J-Gusbmps-3J/J
005053	NOD.Cg-Prkdcscid Gusbmps/SndsJ
001880	STOCK Gusbmps Tg(GUSB)4Sly/BirJ

View Strains carrying other alleles of Gusb     (19 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Mucopolysaccharidosis Type VII

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Gusb^mps-2J/Gusb^mps-2J

        C3H/HeOuJ-Gusb^mps-2J/BrkJ

• mortality/aging
• premature death   (MGI Ref ID J:72372)
• cellular phenotype
• abnormal lysosome morphology
  • lysosomal storage disorder   (MGI Ref ID J:50358)
  • lysosomal storage disorder   (MGI Ref ID J:72372)
• craniofacial phenotype
• shortened head   (MGI Ref ID J:50358)
• growth/size phenotype
• decreased body size   (MGI Ref ID J:50358)
• postnatal growth retardation   (MGI Ref ID J:50358)
• limbs/digits/tail phenotype
• short limbs   (MGI Ref ID J:50358)
• short tail   (MGI Ref ID J:50358)
• thick tail   (MGI Ref ID J:50358)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Gusb^mps-2J related

Developmental Biology Research
Growth Defects
      Growth Defects (homozygous)
Skeletal Defects

Metabolism Research

Mouse/Human Gene Homologs
mucopolysaccharidosis type VII, GUSB deficiency

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Gusbmps-2J
Allele Name		beta glucuronidase, mucopolysaccharidosis VII 2 Jackson
Allele Type		Spontaneous
Common Name(s)		gusmps-2J;
Mutation Made By		Brian Soper,   The Jackson Laboratory
Strain of Origin		C3H/HeOuJ
Gene Symbol and Name		Gusb, glucuronidase, beta
Chromosome		5
Gene Common Name(s)		AI747421; Ac2-223; BG; Gur; Gus; Gus-r; Gus-s; Gus-t; Gus-u; Gut; MPS7; adipose storage deficiency; asd; beta-glucuronidase regulator; beta-glucuronidase structural; beta-glucuronidase systemic regulator; beta-glucuronidase temporal; expressed sequence AI747421; g;
Molecular Note		Southern blot analysis showed that this allele is the result of a 5.4kb intracisternal A particle (IAP) transposon insertion near the 3' end of intron 8. Homozygous mice have less than 1% of the normal levels of beta glucuronidase activity. [MGI Ref ID J:50358]

Genotyping

Genotyping Information

Genotyping Protocols

Gusb^mps-2J, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Gusb^mps-2J related

Gwynn B; Lueders K; Sands MS; Birkenmeier EH. 1998. Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. Mol Cell Biol 18(11):6474-81. [PubMed: 9774663]  [MGI Ref ID J:50358]

Vogler C; Levy B; Galvin N; Sands MS; Birkenmeier EH; Sly WS; Barker J. 2001. A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings. Pediatr Res 49(3):342-8. [PubMed: 11228259]  [MGI Ref ID J:72372]

Zhou D; Cantu C rd; Sagiv Y; Schrantz N; Kulkarni AB; Qi X; Mahuran DJ; Morales CR; Grabowski GA; Benlagha K; Savage P; Bendelac A; Teyton L. 2004. Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins. Science 303(5657):523-7. [PubMed: 14684827]  [MGI Ref ID J:90443]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

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The Jackson Laboratory's Genotype Promise

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.

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