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Strain Name:

B6.Cg-Gusbmps/BrkJ

Stock Number:

006407

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Former Name      B6.Cg-Gusbmps/J    (Changed: 03-OCT-06 )
Genes & Alleles   Gusb;   Gusbmps;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
Donating Investigator Brian Soper,   The Jackson Laboratory
GenerationN10pN1

Strain Description
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.

Strain Development
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.

Related Disease (OMIM) Terms

Mucopolysaccharidosis Type VII
Mammalian Phenotype Terms assigned by genotype

Gusbmps/Gusbmps

        involves: C57BL/6By
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:13923)
    • death between 150 and 200 days
  • adipose tissue phenotype
  • decreased white adipose tissue amount (MGI Ref ID J:13923)
    • absent, but normal brown fat amount
  • craniofacial phenotype
  • short snout (MGI Ref ID J:13923)
  • endocrine/exocrine gland phenotype
  • abnormal lactation (MGI Ref ID J:13923)
    • inadequate lactation to nurture pups
  • growth/size phenotype
  • decreased body length (MGI Ref ID J:13923)
  • dwarfism (MGI Ref ID J:13923)
    • subtle
  • homeostasis/metabolism phenotype
  • decreased circulating cholesterol level (MGI Ref ID J:13923)
    • compared to littermate controls
  • limbs/digits/tail phenotype
  • short limbs (MGI Ref ID J:13923)
  • short tail (MGI Ref ID J:13923)
  • reproductive system phenotype
  • abnormal lactation (MGI Ref ID J:13923)
    • inadequate lactation to nurture pups
  • male infertility (MGI Ref ID J:13923)
    • sterility not due to reproductive or gonadal tract dysmorphology or to sperm numbers, morphology, or motility
  • skeleton phenotype
  • abnormal skeleton morphology (MGI Ref ID J:13923)
    • mutant bones shorter and thicker than littermate controls, but contain same amount of mineralization

Gusbmps/Gusbmps

        B6.Cg-Gusbmps/BrkJ
  • cellular phenotype
  • abnormal cell content/ morphology (MGI Ref ID J:21256)
    • elevation of hexuronic acid levels in tissues indicating glycosaminoglycan storage
    • abnormal lysosome morphology (MGI Ref ID J:21256)
      • lysosomal storage disease
  • homeostasis/metabolism phenotype
  • abnormal enzyme/ coenzyme level (MGI Ref ID J:21256)
    • homozygotes exhibit an elevation of many lysosomal enzymes, including beta-hexosaminidase, beta-galactosidase, alpha-mannosidase, acid phosphatase, aryl sulfatase A, and alpha-fucosidase
  • renal/urinary system phenotype
  • abnormal renal glomerulus morphology (MGI Ref ID J:21256)
    • visceral epithelial cells of the glomerulus are distended by enlarged lysosomes containing fine fibrillar material and small fragments of membranous debris

Gene & Allele Details

Allele Symbol Gusbmps
Allele Name beta glucuronidase, mucopolysaccharidosis VII
Common Name(s) Gus-b; asd; gusmps;
Mutation Made By Brian Soper,   The Jackson Laboratory
Strain of OriginC57BL/6By
Gene Symbol and Name Gusb, glucuronidase, beta
Chromosome 5
Gene Common Name(s) AI747421; Ac2-223; FLJ39445; 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 A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497. [MGI Ref ID J:13207]

Control Information

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

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, heterozygous mice are bred together. Mice homozygous for this recessive mutation are viable, but exhibit breeding problems.

Related Strains

View Strains carrying   Gusbmps     (7 strains)

Strains carrying other alleles of Gusb
005643   B6.129X-Gusbtm1Sly/J
005644   B6.129X-Gusbtm3Sly/J
006557   B6.C3-Gusbmps-2J/BrkJ
006558   B6.Cg-H2bm1 Tg(GUSB)4Sly/SndsJ
003525   C3H/HeOuJ-Gusbmps-2J/BrkJ
005322   C57BL/6J-Gusbmps-3J/J
001880   STOCK Gusbmps Tg(GUSB)4Sly/BirJ
View Strains carrying other alleles of Gusb     (7 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

Developmental Biology Research
Skeletal Defects

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Liver Defects
Spleen Defects

Mouse/Human Gene Homologs
deafness
mucopolysaccharidosis type VII, GUSB deficiency

Research Tools
Reproductive Biology Research

Sensorineural Research
Eye Defects

Gusbmps related

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

Metabolism Research

Mouse/Human Gene Homologs
mucopolysaccharidosis type VII, GUSB deficiency

Neurobiology Research
Behavioral and Learning Defects

Sensorineural Research

References

Selected Reference(s)

Lessard MD; Alley TL; Proctor JL; Levy B; Galvin N; Vogler CA; Soper BW. 2006. Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation. Clin Immunol 119(2):166-79. [PubMed: 16487752]  [MGI Ref ID J:112478]

Schuldt AJ; Hampton TJ; Chu V; Vogler CA; Galvin N; Lessard MD; Barker JE. 2004. Electrocardiographic and other cardiac anomalies in beta-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation. Proc Natl Acad Sci U S A 101(2):603-8. [PubMed: 14704281]  [MGI Ref ID J:112477]

Soper BW; Lessard MD; Jude CD; Schuldt AJ; Bunte RM; Barker JE. 2003. Successful allogeneic neonatal bone marrow transplantation devoid of myeloablation requires costimulatory blockade. J Immunol 171(6):3270-7. [PubMed: 12960357]  [MGI Ref ID J:112476]

Vogler C; Levy B; Galvin N; Lessard M; Soper B; Barker J. 2005. Early onset of lysosomal storage disease in a murine model of mucopolysaccharidosis type VII: undegraded substrate accumulates in many tissues in the fetus and very young MPS VII mouse. Pediatr Dev Pathol 8(4):453-62. [PubMed: 16222480]  [MGI Ref ID J:112479]

Additional References

Price and Supply Information

Strain Name: B6.Cg-Gusbmps/BrkJ
Stock Number: 006407

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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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.
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