Overview

Also Known As:MPS VII

These mutant mice exhibit lysosomal storage disease and may serve as a model for Sly disease in humans.

Genetic overview

Genetic Background	Generation

Gusb^mps

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gusb	glucuronidase, beta

Allele Type	Gene Symbol	Gene Name
Spontaneous	H2-K	histocompatibility 2, K region

Research Applications

Developmental Biology Research
Neurobiology Research
Mouse/Human Gene Homologs
Metabolism Research
Sensorineural 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 Gusb^mps 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.

Development

The Gusb^mps mutation arose spontaneously on B6.C-H2^bm1/By in 1976 (Birkenmeier et al., 1989). This strain is derived from JR 000256 (# 000256 ) and cryopreserved as homozygous sperm in 2007.

Genetics

Gusb^mps

Allele Symbol: Gusb^mps

Allele Name	beta glucuronidase, mucopolysaccharidosis VII
Allele Type	Spontaneous
Allele Synonym(s)	asd; gus^mps; Gus-b; MPS VII
Gene Symbol and Name	Gusb, glucuronidase, beta
Gene Synonym(s)
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

H2-K^bm1

Allele Symbol: H2-K^bm1

Allele Name	b haplotype mutation 1
Allele Type	Spontaneous
Allele Synonym(s)	bm1; H(z1); H-2^ba; H-2^bm1; K^bm1
Gene Symbol and Name	H2-K, histocompatibility 2, K region
Gene Synonym(s)
Strain of Origin	C57BL/6By
Chromosome	17
General Note	Genbank ID for this allele: X56624
Molecular Note	The bm1 mutation contains 7 nucleotide differences resulting in amino acid substitutions at codon 152 (glutamate to alanine), codon 155 (arginine to tyrosine) and codon 156 (leucine to tyrosine).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Sly syndrome

Research Areas By Phenotype

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

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

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

Mammalian Phenotype Terms by Genotype

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

Genotype: Gusb^mps/Gusb^mps
involves: C57BL/6By

adipose tissue phenotype

decreased white adipose tissue amount
- absent, but normal brown fat amount

limbs/digits/tail phenotype

short limbs

short tail

mortality/aging

premature death
- death between 150 and 200 days

renal/urinary system phenotype

increased urine glycosaminoglycan level
- increase in urinary glycosaminoglycan levels

reproductive system phenotype

male infertility
- sterility not due to reproductive or gonadal tract dysmorphology or to sperm numbers, morphology, or motility

skeleton phenotype

abnormal skeleton morphology
- mutant bones shorter and thicker than littermate controls, but contain same amount of mineralization

craniofacial phenotype

short snout

endocrine/exocrine gland phenotype

abnormal lactation
- inadequate lactation to nurture pups

growth/size/body region phenotype

decreased body length

disproportionate dwarf
- subtle

short snout

homeostasis/metabolism phenotype

decreased circulating cholesterol level
- compared to littermate controls

increased urine glycosaminoglycan level
- increase in urinary glycosaminoglycan levels

integument phenotype

abnormal lactation
- inadequate lactation to nurture pups

Genotype: Gusb^mps/Gusb^mps
B6.C-H2-K/ByBir-Gusb/J

cellular phenotype

abnormal lysosome morphology
- vacuolar storage in many tissues (lysosomal storage disorder)

mortality/aging

premature death
- males live an average of 170 days and females an average of 141 days; only 10 live longer than 241 days

reproductive system phenotype

male infertility
- males are sterile, however gonadal and reproductive tract morphology and sperm numbers, morphology, and motility appear normal

skeleton phenotype

abnormal skeleton morphology
- severe skeletal deformities

small nasal bone
- nasal bones are reduced in size, resulting in a pug-nosed appearance

craniofacial phenotype

short snout
- pug-nosed appearance

small nasal bone
- nasal bones are reduced in size, resulting in a pug-nosed appearance

endocrine/exocrine gland phenotype

abnormal lactation
- females exhibit insufficient lactation to nurture pups

growth/size/body region phenotype

disproportionate dwarf

short snout
- pug-nosed appearance

integument phenotype

abnormal lactation
- females exhibit insufficient lactation to nurture pups

limbs/digits/tail phenotype

short limbs
- shorter, stubby limbs

short tail

thick tail

References

Additional - Gusb^mps related

Additional - H2-K^bm1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Restriction Enzyme Digest:Gusb
- Pyrosequencing:Gusb
- Genotyping resources and troubleshooting
Citation
When using the MPS VII mouse strain in a publication, please cite the originating article(s) and include JAX stock #006559 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/Product	Description	Price
	Heterozygous for Gusb<mps>

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

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JAX® Mice, Products & Services Conditions of Use

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Also Known As:MPS VII

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Gusbmps

Allele Symbol: Gusbmps

H2-Kbm1

Allele Symbol: H2-Kbm1

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Gusbmps related

Mammalian Phenotype Terms by Genotype

Genotype: Gusbmps/Gusbmpsinvolves: C57BL/6By

adipose tissue phenotype

limbs/digits/tail phenotype

mortality/aging

renal/urinary system phenotype

reproductive system phenotype

skeleton phenotype

craniofacial phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

homeostasis/metabolism phenotype

integument phenotype

Genotype: Gusbmps/GusbmpsB6.C-H2-K/ByBir-Gusb/J

cellular phenotype

mortality/aging

reproductive system phenotype

skeleton phenotype

craniofacial phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

integument phenotype

limbs/digits/tail phenotype

References

Additional - Gusbmps related

Additional - H2-Kbm1 related

Genotyping Protocols

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

Gusb^mps

Allele Symbol: Gusb^mps

H2-K^bm1

Allele Symbol: H2-K^bm1

Genotype: Gusb^mps related

Genotype: Gusb^mps/Gusb^mps
involves: C57BL/6By

Genotype: Gusb^mps/Gusb^mps
B6.C-H2-K/ByBir-Gusb/J

Additional - Gusb^mps related

Additional - H2-K^bm1 related