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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names C3H/HeOuJ-Gusbmps-2J (Changed: 13-APR-07 ) C3H/HeOuJ-Gusmps-2J (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Heterozygote x Homozygote (Female x Male) Species laboratory mouse Generation F46pN1+F3 (28-DEC-07) Appearance
black
Related Genotype: a/aDescription
Mice homozygous for the Gusmps-2J allele exhibit a phenotype similar to Gusmps 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 Gusmps heterozygote, Gusmps-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 Gusmps homozygote, Gusmps-2J homozygotes 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.Development
The Gusmps-2J mutation arose spontaneously in the C3H/HeOuJ (Stock No. 000635) 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. This strain was maintained by sibling inbreeding and in 2007 sperm were cryopreserved from homozygous males at generation F46.
Control Information
| Control | ||
|---|---|---|
| 000635 C3H/HeOuJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Gusbmps-2J allele
006557 B6.C3-Gusbmps-2J/BrkJ View Strains carrying Gusbmps-2J (1 strain)
006564 B6(C)-KitW-41J Gusbmps/BrkJ 005643 B6.129X-Gusbtm1Sly/J 005644 B6.129X-Gusbtm3Sly/J 006559 B6.C-H2bm1/ByBir-Gusbmps/BrkJ 000256 B6.C-H2bm1/ByBir-Gusbmps/J 006562 B6.CBy(Cg)-Gusbmps Gpi1a-m1J/BrkJ 006407 B6.Cg-Gusbmps/BrkJ 002086 B6.Cg-Gusbmps Tg(Gussx)1Wat/J 006558 B6.Cg-H2bm1 Tg(GUSB)4Sly/SndsJ 005322 C57BL/6J-Gusbmps-3J/J 005053 NOD.Cg-Prkdcscid Gusbmps/SndsJ 001880 STOCK Gusbmps Tg(GUSB)4Sly/BirJ
Phenotype
Phenotype Information
Mucopolysaccharidosis Type VII - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Gusbmps-2J/Gusbmps-2J
C3H/HeOuJ-Gusbmps-2J/BrkJ
- life span-post-weaning/aging
- premature death (MGI Ref ID J:72372)
- cellular phenotype
- abnormal lysosome morphology (MGI Ref ID J:50358)
- lysosomal storage disorder
- lysosomal storage disorder
- 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)
This mouse can be used to support research in many areas including:Gusbmps-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
| Allele Symbol | Gusbmps-2J | ||
|---|---|---|---|
| Allele Name | beta glucuronidase, mucopolysaccharidosis VII 2 Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | gusmps-2J; | ||
| Strain of Origin | C3H/HeOuJ | ||
| 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 | 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
Gusbmps-2J, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
References
References
Selected Reference(s)
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]
Additional References
Birkenmeier EH; Davisson MT; Beamer WG; Ganschow RE; Vogler CA; Gwynn B; Lyford KA; Maltais LM; Wawrzyniak CJ. 1989. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest 83(4):1258-6. [PubMed: 2495302] [MGI Ref ID J:9705]
Sands MS; Birkenmeier EH. 1993. A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII. Proc Natl Acad Sci U S A 90(14):6567-71. [PubMed: 8101990] [MGI Ref ID J:13207]
Sands MS; Vogler C; Kyle JW; Grubb JH; Levy B; Galvin N; Sly WS; Birkenmeier EH. 1994. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 93(6):2324-31. [PubMed: 8200966] [MGI Ref ID J:19122]
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]
Gusbmps-2J relatedVogler 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
Room Number AX11
Colony Maintenance
Mating System Heterozygote x Homozygote (Female x Male) Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $197.70 Female or Male Heterozygous for Gusbmps-2J $124.10 Female or Male Homozygous for Gusbmps-2J *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $321.80 Heterozygous for Gusbmps-2J x Homozygous for Gusbmps-2J $321.80 Homozygous for Gusbmps-2J x Heterozygous for Gusbmps-2J
Additional Supply Details
| Supply Notes |
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $257.10 Female or Male Heterozygous for Gusbmps-2J $161.40 Female or Male Homozygous for Gusbmps-2J *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $418.40 Heterozygous for Gusbmps-2J x Homozygous for Gusbmps-2J $418.40 Homozygous for Gusbmps-2J x Heterozygous for Gusbmps-2J
Additional Supply Details
| Supply Notes |
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
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Control Information
| Control | ||
|---|---|---|
| 000635 C3H/HeOuJ | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
General Terms and Conditions
See Terms of Use
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