Overview

Also Known As: W⁴¹ MPS VII

These mice carry the mouse mucopolysaccharidosis VII mutation on a C57BL/6J with a dominant spotting genetic background and exhibit lysosomal storage disease. They may serve as a model for Sly disease in humans.

Donating Investigator

Brian Soper, The Jackson Laboratory

Genetic overview

Genetic Background	Generation

Gusb^mps

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gusb	glucuronidase, beta

Kit^W-41J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Kit	KIT proto-oncogene receptor tyrosine kinase

View Genetics

Research Applications

Cancer Research
Mouse/Human Gene Homologs
Research Tools
Neurobiology Research
Sensorineural Research
Reproductive Biology Research
Dermatology Research
Developmental Biology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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. In appearance, homozygous Kit^W-41J mice are mostly white with black eyes and brown or grey spots. They are fertile, distinct from mice with other alleles of Kit, and have the impaired hemopoiesis causing mild, normochromic, macrocytic anemia. 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. This strain, with combined Kit^W-41J and Gusb^mps, provides a genetically myeloablated population in which to study stem cell engraftment and reconstitution.

Development

This double mutant was generated by crossing B6.C-H2^bm1/ByBir-Gusb^mps/J (Stock No. 000256) and C57BL/6J-Kit^W-41J/J (Stock No. 000119). Progeny selected for the appropriate alleles were backcrossed to C57BL/6J-Kit^W-41J/J (Stock No. 000119) for 10 generations by Dr. Jane Barker at The Jackson Laboratory. The strain was donated to the Repository in 2007.

Selected References

Soper BW; Duffy TM; Vogler CA; Barker JE. 1999. A genetically myeloablated MPS VII model detects the expansion and curative properties of as few as 100 enriched murine stem cells. Exp Hematol 27(11):1691-704PubMed: 10560917 MGI: J:58272

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Genetics

Gusb^mps

Allele Symbol: Gusb^mps

Allele Name	beta glucuronidase, mucopolysaccharidosis VII
Allele Type	Spontaneous
Allele Synonym(s)	Gusb^mps; beta glucuronidase, mucopolysaccharidosis VII
Gene Symbol and Name	Gusb, glucuronidase, beta
Gene Synonym(s)	adipose storage deficiency; beta-glucuronidase regulator; beta-glucuronidase systemic regulator; beta-glucuronidase temporal; BG; asd; Gus-t; AI747421; Gus-u; asd; MPS7; Gur; Gus; Gus-r; Gus-u; Gut; Gur; Gus-r; Gus-s; Gus-t; g; beta-glucuronidase structural; Gus-s; adipose storage deficiency; g; Gut; expressed sequence AI747421; Ac2-223
Strain of Origin	B6.C-H2-K^bm1/By
Chromosome	5
Molecular Note	A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497.
Mutations Made By	Brian Soper, The Jackson Laboratory

Kit^W-41J

Allele Symbol: Kit^W-41J

Allele Name	dominant spotting 41 Jackson
Allele Type	Spontaneous
Allele Synonym(s)	dominant spotting 41 Jackson; Kit^W-41J
Gene Symbol and Name	Kit, KIT proto-oncogene receptor tyrosine kinase
Gene Synonym(s)	C-Kit; belly-spot; Dominant white spotting; dominant spotting; Gsfsco1; Gsfsco5; Gsfsow3; Gsfsco1; Gsfsco5; Gsfsow3; gsf spotted coat 5; Fdc; PBT; gsf spotted coat 1; Ssm; SCFR; SCO1; SCO5; SOW3; W; spotted sterile male; Steel Factor Receptor; belly-spot; Tr-kit; Bs; phenotype like Sl or W 3; CD117; c-KIT; MASTC
Strain of Origin	C57BL/6J
Chromosome	5
Molecular Note	Comparison of the coding sequence of this allele with normal c-kit indicated a G to A point mutation in the kinase domain at nucleotide 2519 that results in a valine to methionine substitution at amino acid 831.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Kit^W-41J related

Cancer Research
- Increased Tumor Incidence
  - Gonadal Tumors: ovarian
  - Gonadal Tumors
- Growth Factors/Receptors/Cytokines
- Oncogenes
Mouse/Human Gene Homologs
- piebaldism
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - Mast Cell Deficiency
Neurobiology Research
- Receptor Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
  - germ cell deficient
- Fertility Defects
- Gonadal Tumors
  - ovarian
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
Endocrine Deficiency Research
- Bone/Bone Marrow Defects
- Gonad Defects
- Skin Defects
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency

Genotype: Gusb^mps related

Developmental Biology Research
- Skeletal Defects
- Growth Defects
  - Growth Defects (homozygous)
Neurobiology Research
- Behavioral and Learning Defects
Mouse/Human Gene Homologs
- mucopolysaccharidosis type VII, GUSB deficiency
Metabolism Research
Sensorineural Research

Research Tools
- Immunology, Inflammation and Autoimmunity Research
- Hematological Research

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Gusb^mps/Gusb^mps Kit^W-41J/Kit^W-41J
B6(C)-Kit Gusb/BrkJ

cellular phenotype

abnormal lysosome morphology
- extensive lysosomal storage, evident histologically as large cleared foamy cells, in the liver, kidney, and spleen

hematopoietic system phenotype

decreased hematopoietic stem cell number
- severe deficiency of hematopoietic stem cells

mortality/aging

premature death
- average life span is approximately 26 weeks

References

Soper BW; Duffy TM; Vogler CA; Barker JE. 1999. A genetically myeloablated MPS VII model detects the expansion and curative properties of as few as 100 enriched murine stem cells. Exp Hematol 27(11):1691-704PubMed: 10560917 MGI: J:58272

Additional - Gusb^mps related

Additional - Kit^W-41J related

Technical Support

Contact Technical Support

Genotyping Protocols
- Restriction Enzyme Digest:Gusb^mps
- Pyrosequencing:Gusb^mps
- Pyrosequencing:Kit^W-41J
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, these mice can be bred as heterozygotes. Homozygous Gusb^mps females do not lactate. Homozygous Gusb^mps males do not breed.
- Additional Breeding and Husbandry Support
Citation
When using the W⁴¹ MPS VII mouse strain in a publication, please cite the originating article(s) and include JAX stock #006564 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Homozygous for Kit<W-41J>, Heterozygous or Wild-type for Gusb<mps>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

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Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

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Also Known As: W41 MPS VII

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Gusbmps

Allele Symbol: Gusbmps

KitW-41J

Allele Symbol: KitW-41J

Disease Terms

Research Areas By Genotype

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

Genotype: KitW-41J related

Genotype: Gusbmps related

Mammalian Phenotype Terms by Genotype

Genotype: Gusbmps/Gusbmps KitW-41J/KitW-41JB6(C)-Kit Gusb/BrkJ

cellular phenotype

hematopoietic system phenotype

mortality/aging

References

Additional - Gusbmps related

Additional - KitW-41J related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Also Known As: W⁴¹ MPS VII

Gusb^mps

Allele Symbol: Gusb^mps

Kit^W-41J

Allele Symbol: Kit^W-41J

Genotype: Kit^W-41J related

Genotype: Gusb^mps related

Genotype: Gusb^mps/Gusb^mps Kit^W-41J/Kit^W-41J
B6(C)-Kit Gusb/BrkJ

Additional - Gusb^mps related

Additional - Kit^W-41J related