B6.Cg-H2-K^bm1 Tg(GUSB)4Sly/SndsJ

Stock number: 006558
Research areas: Metabolism Research, Research Tools

Description

Mice that are homozygous for this transgene and the Gusb^mps allele have approximately 20-fold higher beta-glucuronidase enzyme activity than wildtype controls. These transgenic mice do not carry the Gusb^mps allele. Mice that are hemizygous for this transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of lysomal storage diseases and mucopolysaccharidosis VII (Sly syndrome).

Detailed description

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. Of note, mice homozygous for both the transgene and the Gusb^mps allele do not exhibit an accumulation of undegraded glycosaminoglycans. These transgenic mice do not carry the Gusb^mps allele. Mice that are hemizygous for this transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of lysomal storage diseases and mucopolysaccharidosis VII (Sly syndrome).

Development

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. Male mice from founder line 4 that were hemizygous for the transgenic insert were crossed with female mice homozygous for the Gusb^mps allele. Mice homozygous for both the transgene and the Gusb^mps allele were produced by intercross. These mice were maintained by crossing to B6.C-H2^bm1/ByJ (Stock No. 001060) and no longer carry the Gusb^mps allele.

The Donating Investigator maintained the colony by breeding mice homozygous for the transgene.

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: H2-K^bm1
Name: b haplotype mutation 1
MGI accession ID: MGI:3618114
Generation method: Spontaneous
Marker symbol: H2-K
Marker name: histocompatibility 2, K region
Chromosome: 17
Strain of origin: C57BL/6By
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).
General note: Genbank ID for this allele: X56624