Go to JAX® Mice Query Form

Strain Name:

B6.C-H2bm1/ByBir-Gusbmps/J

Stock Number:

000256

Availability:

Repository-Cryopreserved

Price and Supply Information

General Terms and Conditions

Former Name      B6.C-H2bm1/ByBir-Gusmps/J    (Changed: 15-DEC-04 )
Genes & Alleles   Gusb;   Gusbmps;   H2-K;   H2-Kbm1;   H2;   ;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Major Histocompatibility Congenic
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse

Appearance
black
Related Genotype: a/a

Strain Description
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.

Strain Development
The Gusbmps mutation arose spontaneously on B6.C-H2bm1/By in 1976 (Birkenmeier et al., 1989).

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

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

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]
Gene Symbol and Name H2, histocompatibility-2, MHC
Chromosome 17
Gene Common Name(s) H-2; MHC-II;
Allele Symbol H2-Kbm1
Allele Name b haplotype mutation 1
Common Name(s) H(z1); H-2ba; H-2bm1; Kbm1; bm1;
Gene Symbol and Name H2-K, histocompatibility 2, K region
Chromosome 17

Control Information

  Control
   Heterozygote from the colony
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related Strains

View Strains carrying   Gusbmps     (7 strains)

Strains carrying   H2-Kbm1 allele
000368   B6.C-H2bm1/By
006559   B6.C-H2bm1/ByBir-Gusbmps/BrkJ
001060   B6.C-H2bm1/ByJ
006558   B6.Cg-H2bm1 Tg(GUSB)4Sly/SndsJ
002432   B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J
View Strains carrying   H2-Kbm1     (5 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

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

Additional References

Price and Supply Information

Strain Name: B6.C-H2bm1/ByBir-Gusbmps/J
Stock Number: 000256

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        International

Price(s) in US dollars ($)
Cryorecovery Fee $2470.00

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery of Strains Needing Progeny Testing.
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 untested males and two untested females (two pairs) will be recovered, 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 overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

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.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.
View Control Pricing Information for JAX® Strains.

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

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.
Ordering and Purchasing Information

      Purchasing Information
      JAX® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Go to JAX® Mice Query Form

(2.15)