STOCK Gusb^mps Tg(GUSB)4Sly/BirJ

Stock number: 001880
Product name: MPS VII GUSB
Research areas: Developmental Biology Research, Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Gusb locus, that by itself causes a deficiency of beta-glucuronidase, and a transgene carrying the human beta-glucuronidase gene, that corrects the beta-glucuronidase deficiency. These mice are useful in studies relating to mucopolysaccharidosis VII (Sly syndrome) in humans.

Detailed description

These mice carry an allele that confers a deficiency of beta-glucuronidase (beta-D-glucuronoside glucuronosohydrolase) and a transgene carrying the human beta-glucuronidase gene. Whereas the Gusb^mps allele produces virtually no murine beta-glucuronidase, these mice with the human beta-glucuronidase gene express high levels of human beta-glucuronidase activity in all tissues examined and are phenotypically normal. . Biochemically, both the intralysosomal storage of glycosaminoglycans and the secondary elevation of other acid hydrolases are corrected.

Allele

Symbol: Tg(GUSB)4Sly
Name: transgene insertion 4, William S Sly
MGI accession ID: MGI:3764916
Generation method: Transgenic
Attributes: Inserted expressed sequence; Humanized sequence
Marker symbol: Tg(GUSB)4Sly
Marker name: transgene insertion 4, William S Sly
Chromosome: UN
Strain of origin: C57BL/6J
Expressed genes: GUSB,glucuronidase beta,human
Molecular note: The entire human beta-glucuronidase gene with 1.6kb of 5'-flanking sequence and 3.8kb of 3'-flanking sequence was microinjected into C57BL/6J zygotes. Founder line 4 was subsequently propagated. Mice that are homozygous for this transgene and the Gusb^mps allele have approximately 20-fold higher beta-glucuronidase enzyme activity than wildtype controls. Distribution of human enzyme activity throughout various tissues mimics the endogenous mouse enzyme activity pattern.

Allele

Symbol: Gusb^mps
Name: beta glucuronidase, mucopolysaccharidosis VII
MGI accession ID: MGI:1856041
Generation method: Spontaneous
Marker symbol: Gusb
Marker name: glucuronidase, beta
Chromosome: 5
Strain of origin: B6.C-H2-K^bm1/By
Molecular note: A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497.