Overview

These mice carry a spontaneous mutation at the Sgsh locus characterized by scruffy coat, hunched posture, and reduced activity, and corneal opacity as a result of extensive lysosomal accumulation of heparin sulfate most prominently in neuronal tissue and liver and, to a lesser degree, in the spleen.

Genetic overview

Genetic Background	Generation

Sgsh^mps3a

Allele Type	Gene Symbol	Gene Name
Spontaneous	Sgsh	N-sulfoglucosamine sulfohydrolase (sulfamidase)

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Research Applications

Internal/Organ Research
Cell Biology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the Sgsh^mps3a mutation have only 3-4% of the wild type level of sulfamidase activity. This results in extensive lysosomal accumulation of heparin sulfate most prominently in neuronal tissue and liver and, to a lesser degree, in the spleen. GM2 ganglioside accumulation is also found. The outward phenotype of scruffy coat, hunched posture, and reduced activity is usually seen by 6 to 7 months of age. Corneal opacity is also found at approximately 7 months of age. Death occurs between 7 and 10 months of age, on average, and autopsy reveals brain lesions, hepatosplenomegaly and a distended bladder containing turbid urine. The homozygotes have thicker skullcaps, vertebral deformation, thickening of the urinary bladder wall, and bladder blockage that leads to severe bladder distention as they age. Sgsh^mps3a /Sgsh^mps3a mice provide a model for the human disease mucopolysaccharidosis 3A (MPSIIIA), also known as Sanfilippo syndrome type A. The electrophoresis banding pattern of glycosaminoglycans from the brain and urine of homozygous mice is similar to the abnormal pattern found in samples from human MPSIIIA patients. The human disease symptoms include severe central nervous system degeneration, claw hand, and visceromegaly, with death occurring in the second or third decade of life. Please see OMIM for more details. (Bhaumik et al., 1999; Bhattacharyya et al., 2001.)

Development

The Sgsh^mps3a mutation arose in a colony developed from a chimera formed by injecting WW6 embryonic stem cells with a targetted mutation in the Mgat3 gene into C57BL/6 blastocysts. The ES cell clone did not carry the mutation. A female chimera was subsequently crossed with a CD1 male and Mgat3 heterozygotes were intercrossed. The Sgsh^mps3a mutation was detected after 4 generations and probably arose during intercrossing. The lysosomal storage disease phenotype segregated from the Mgat3^tm1Pst allele and a strain carrying the sulfamidase deficiency was developed. Thus the genetic background was originally a mixture of 129SvJ, C57BL/6, SJL, and CD1. Thereafter, the mutation was backcrossed onto C57BL/6J. By 2017, the cryopreserved materials for Stock No. 003780 are backcrossed onto C57BL/6J for a total of 14 or more generations.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Bhattacharyya R; Gliddon B; Beccari T; Hopwood JJ; Stanley P. 2001. A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11(1):99-103PubMed: 11181566 MGI: J:72143
Bhaumik M; Muller VJ; Rozaklis T; Johnson L; Dobrenis K; Bhattacharyya R; Wurzelmann S; Finamore P; Hopwood JJ; Walkley SU; Stanley P. 1999. A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9(12):1389-96PubMed: 10561464 MGI: J:72142

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Genetics

Sgsh^mps3a

Allele Symbol: Sgsh^mps3a

Allele Name	mucopolysaccharidosis IIIA
Allele Type	Spontaneous
Allele Synonym(s)	MPS IIIA
Gene Symbol and Name	Sgsh, N-sulfoglucosamine sulfohydrolase (sulfamidase)
Gene Synonym(s)
Strain of Origin	Mixed stock
Chromosome	11
Molecular Note	A G-to-A transition point mutation at coding nucleotide 91 of the encoded mRNA (c.91G>A) altered the corresponding amino acid from aspartic acid to asparagine at position 31 of the encoded protein (p.D31N).

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).

mucopolysaccharidosis III

Research Areas By Phenotype

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

Genotype: Sgsh^mps3a related

Internal/Organ Research
- Liver Defects
- Spleen Defects
- Bladder
Cell Biology Research
- Post-translational Processing
Mouse/Human Gene Homologs
- mucopolysaccharidosis type IIIA, Sanfilippo syndrome type A

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Sgsh^mps3a/Sgsh^mps3a
involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL

behavior/neurological phenotype

circling
- observed in some mice over 1 year of age

craniofacial phenotype

thick neurocranium
- thickened calvarium

growth/size/body region phenotype

enlarged liver

enlarged spleen

hematopoietic system phenotype

enlarged spleen

immune system phenotype

enlarged spleen

integument phenotype

abnormal hair texture

disheveled coat
- appeared normal at birth but developed a scruffy, ill appearance around 6-7 months of age

cardiovascular system phenotype

abnormal heart morphology
- endomysium and perivascular space is often expanded by abnormal fibroblasts and macrophages

abnormal heart valve morphology
- valvular cusps and arterial perivascular spaces are also invaded by fibroblasts

abnormal myocardium layer morphology
- myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm

liver/biliary system phenotype

enlarged liver

mammalian phenotype

nervous system phenotype
- Normal - peripheral nerves were normal

mortality/aging

premature death
- most died between 7 and 10 months of age with a small number living to 14 months

muscle phenotype

abnormal myocardium layer morphology
- myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm

renal/urinary system phenotype

abnormal kidney morphology

abnormal renal tubule morphology
- microvesiculated cytoplasm in the distal convoluted tubules, podocytes, and epithelial cells lining the collecting tubules

distended urinary bladder
- at death the bladder is grossly distended and contains 1-2 ml of turbid urine
- heparan sulfate accumulation in the urine

hydronephrosis
- unilateral or bilateral hydronephrosis frequently seen

skeleton phenotype

abnormal vertebrae morphology
- vertebrae become deformed

thick neurocranium
- thickened calvarium

vision/eye phenotype

corneal opacity
- corneal opacity develops around 7 months of age

cellular phenotype

abnormal cell morphology
- cardiac tissues
- cells of the eye
- cerebral and cerebellar neurons as well as other cells in and around the brain, dense inclusions
- dorsal root ganglion
- fibroblasts
- kidney
- vacuolated or vesiculated cells with enlarged cytoplasm in:

abnormal lysosome morphology
- "zebra body" type storage material identifiable by EM in the brain and skeletal muscle
- lysosomal storage is particularly prominent in the liver and spleen

References

Bhattacharyya R; Gliddon B; Beccari T; Hopwood JJ; Stanley P. 2001. A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11(1):99-103PubMed: 11181566 MGI: J:72143
Bhaumik M; Muller VJ; Rozaklis T; Johnson L; Dobrenis K; Bhattacharyya R; Wurzelmann S; Finamore P; Hopwood JJ; Walkley SU; Stanley P. 1999. A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9(12):1389-96PubMed: 10561464 MGI: J:72142

Additional - Sgsh^mps3a related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Restriction Enzyme Digest:Sgsh
- Pyrosequencing:Sgsh
- End Point Analysis:Sgsh End Point
- Genotyping resources and troubleshooting
Breeding Considerations

Homozygous mice die between 7-10 months of age (see strain phenotype description). When maintaining a live colony, heterozygous mice may be bred together, to wildtype mice from the colony or to C57BL/6J inbred mice (Stock No. 000664).
- Additional Breeding and Husbandry Support
Appearance
- black
  Related Genotype: a/a
Citation
When using the B6.Cg-Sgsh^mps3a/PstJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #003780 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 or wildtype for Sgsh<mps3a>

Related Products and Services

Frozen Mouse Embryo	B6.Cg-Sgsh<mps3a>/PstJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6.Cg-Sgsh<mps3a>/PstJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6.Cg-Sgsh<mps3a>/PstJ Frozen Embryos	$3373.50
Frozen Mouse Embryo	B6.Cg-Sgsh<mps3a>/PstJ Frozen Embryos	$3373.50

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

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Sgshmps3a

Allele Symbol: Sgshmps3a

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: Sgshmps3a related

Mammalian Phenotype Terms by Genotype

Genotype: Sgshmps3a/Sgshmps3ainvolves: 129X1/SvJ * CD-1 * C57BL/6 * SJL

behavior/neurological phenotype

craniofacial phenotype

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

integument phenotype

cardiovascular system phenotype

liver/biliary system phenotype

mammalian phenotype

mortality/aging

muscle phenotype

renal/urinary system phenotype

skeleton phenotype

vision/eye phenotype

cellular phenotype

References

Additional - Sgshmps3a related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

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

Sgsh^mps3a

Allele Symbol: Sgsh^mps3a

Genotype: Sgsh^mps3a related

Genotype: Sgsh^mps3a/Sgsh^mps3a
involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL

Additional - Sgsh^mps3a related