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Strain Name:

B6.C-H2bm1/ByBir-Gusbmps/BrkJ

Stock Number:

006559

Availability:

Repository-Cryopreserved

Price and Supply Information

General Terms and Conditions

Genes & Alleles   Gusb;   Gusbmps;   H2-K;   H2-Kbm1;   H2;   ;

Product Information

Strain Details

Type JAX® GEMM® Strain - Coisogenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Congenic
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationF?+30pN1

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

Gusbmps/Gusbmps

        B6.C-H2bm1/ByBir-Gusbmps/J
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:9705)
    • males live an average of 170 days and females an average of 141 days; only 10 live longer than 241 days
  • growth/size phenotype
  • dwarfism (MGI Ref ID J:9705)
  • craniofacial phenotype
  • short snout (MGI Ref ID J:9705)
    • pug-nosed appearance
  • small nasal bone (MGI Ref ID J:9705)
    • nasal bones are reduced in size, resulting in a pug-nosed appearance
  • cellular phenotype
  • abnormal lysosome morphology (MGI Ref ID J:9705)
    • vacuolar storage in many tissues (lysosomal storage disorder)
  • endocrine/exocrine gland phenotype
  • abnormal lactation (MGI Ref ID J:9705)
    • females exhibit insufficient lactation to nurture pups
  • limbs/digits/tail phenotype
  • short limbs (MGI Ref ID J:9705)
    • shorter, stubby limbs
  • short tail (MGI Ref ID J:9705)
  • thick tail (MGI Ref ID J:9705)
  • reproductive system phenotype
  • abnormal lactation (MGI Ref ID J:9705)
    • females exhibit insufficient lactation to nurture pups
  • male infertility (MGI Ref ID J:9705)
    • males are sterile, however gonadal and reproductive tract morphology and sperm numbers, morphology, and motility appear normal
  • skeleton phenotype
  • abnormal skeleton morphology (MGI Ref ID J:9705)
    • severe skeletal deformities
    • small nasal bone (MGI Ref ID J:9705)
      • nasal bones are reduced in size, resulting in a pug-nosed appearance

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

Related Strains

View Strains carrying   Gusbmps     (7 strains)

Strains carrying   H2-Kbm1 allele
000368   B6.C-H2bm1/By
000256   B6.C-H2bm1/ByBir-Gusbmps/J
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:

Developmental Biology Research
Growth Defects Growth Defects (homozygous)

Metabolism Research

Mouse/Human Gene Homologs
mucopolysaccharidosis type VII, GUSB deficiency

Neurobiology Research
Behavioral and Learning Defects

Sensorineural Research

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/BrkJ
Stock Number: 006559

Price Details

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

*Pricing for Shipping Destination selected:

        USA, Canada and Mexico

Price(s) in US dollars ($)
Cryorecovery Fee $1900.00

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  

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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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