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| Homozygous mice for this targeted mutation in beta glucuronidase (Gusb) exhibit growth retardation, shortened extremities, and facial dysmorphism. This model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. This strain represents a model of human GUS deficiency characterized by the most prevalent human mutation, L176F, and is associated with mild Mucopolysaccharidosis type VII (MPS VII or Sly Syndrome). | |||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Heterozygote x Heterozygote (Female x Male) Species laboratory mouse Generation N11+N1 (10-JUN-08) Donating Investigator William Sly, Saint Louis University Medical Center Description
Homozygous mice are viable but infertile. Fertility can be restored with enzyme replacement therapy. Less than 1% residual enzyme activity is observed. Homozygous mice are indistinguishable from wild type mice at birth, but show distinct growth retardation, shortened extremities, and facial dysmorphism observable at three months with a moderate increase in severity with age. Long bones of the lower extremities are shortened, broad, and sclerotic. Compared to wild-type, this model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. Further, homozygous mice show abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, and retinal pigment epithelium. The phenotype exhibited by this mutant mouse strain is less severe than that observed in a similarly constructed mutant (Stock No. 005643) which bears a E536A point mutation. This strain represents a model of human GUS deficiency characterized by the most prevalent human mutation, L176F, and is associated with mild Mucopolysaccharidosis type VII (MPS VII or Sly Syndrome).Development
A targeting vector containing exons 1-10 (12.4 kb) of the targeted gene, a loxP-flanked neomycin resistance gene between exons 9 and 10, and herpes simplex virus thymidine kinase gene for selection of properly transfected cells was used in the creation of this mutant. A mutagenic primer was used to introduce a leucine to phenylalanine substitution at residue 175 (L175F) in exon 2 of the targeting vector. The construct was electroporated into the 129X1/SvJ-derived embryonic stem (ES) cell line RW-4. Correctly targeted ES cells were injected into C57BL/6J blastocysts and the resulting chimeric males were backcrossed for germ-line transmission to C57BL/6J females. Offspring were mated with Cre-expressing C57BL/6J to remove the neomycin resistance gene. The neo-excised heterozygotes were backcrossed to C57BL/6J for ten generations.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Gusb
006564 B6(C)-KitW-41J Gusbmps/BrkJ 005643 B6.129X-Gusbtm1Sly/J 006559 B6.C-H2bm1/ByBir-Gusbmps/BrkJ 000256 B6.C-H2bm1/ByBir-Gusbmps/J 006557 B6.C3-Gusbmps-2J/BrkJ 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 003525 C3H/HeOuJ-Gusbmps-2J/BrkJ 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 (13 strains)
Additional Web Information
Congenic Nomenclature
Phenotype
Phenotype Information
This mouse can be used to support research in many areas including:
Developmental Biology Research
Growth Defects Growth Defects (homozygous)
Skeletal Defects
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Liver Defects
Metabolism Research
Enzyme Deficiency
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Gusbtm3Sly | ||
|---|---|---|---|
| Allele Name | targeted mutation 3, William S Sly | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | Gustm(L175F)Sly; | ||
| Mutation Made By | William Sly, Saint Louis University Medical Center | ||
| Strain of Origin | 129X1/SvJ | ||
| ES Cell Line Name | RW-4 | ||
| ES Cell Line Strain | 129X1/SvJ | ||
| 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 | Site directed mutagenesis was used to introduce a leucine to phenylalanine subsitution at residue 175 (L175F) of exon 2. This mutation corresponds to L176F, the most common mutation found in human GUS deficiency. [MGI Ref ID J:81792] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
References
References
Selected Reference(s)
Tomatsu S; Orii KO; Vogler C; Grubb JH; Snella EM; Gutierrez MA; Dieter T; Sukegawa K; Orii T; Kondo N; Sly WS. 2002. Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. Proc Natl Acad Sci U S A 99(23):14982-7. [PubMed: 12403825] [MGI Ref ID J:81792]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX11
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, heterozygotes are intercrossed to produce homozygotes, heterozygotes, and wild type mice. Homozygous mice are infertile. Intravenous injection of beta-glucuronidase into young homozygous males will restore fertility (see Sands et al, 1994 J Clin Inv 93:2324-2331). Mating System Heterozygote x Heterozygote (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 |
|
Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $236.40 Female or Male Heterozygous for Gusbtm3Sly $291.90 Female or Male Homozygous for Gusbtm3Sly *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $472.80 Heterozygous for Gusbtm3Sly x Heterozygous for Gusbtm3Sly
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 $307.40 Female or Male Heterozygous for Gusbtm3Sly $379.50 Female or Male Homozygous for Gusbtm3Sly *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $614.70 Heterozygous for Gusbtm3Sly x Heterozygous for Gusbtm3Sly
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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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| 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
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
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Contact information
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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