B6;129S7-Uox^tm1Bay/J

Stock number: 002223
Research areas: Metabolism Research

Detailed description

Mice homozygous for this mutation are viable and fertile although about 65% of homozygous mice die by 4 weeks of age unless maintained on allopurinol. Homozygous mice show severe hyperuricemia and urate nephropathy. These mice may serve as animal models for hyperuricemia and its related nephropathy in humans.

Development

Exon 3 of the Uox gene was disrupted using a vector containing the neo resistance gene. The 129-derived AB1 ES cell line was used.

Allele

Symbol: Uox^tm1Bay
Name: targeted mutation 1, Baylor College of Medicine
MGI accession ID: MGI:1857266
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Uox
Marker name: urate oxidase
Marker synonyms: UOX-2; UOXP; Uri; Uri2; URICASE
Chromosome: 3
Strain of origin: 129S7/SvEvBrd-Hprt1⁺
Molecular note: The insertion of a neomycin cassette into exon 3 disrupted the open reading frame at codon 107. Western blot analysis revealed an absence of encoded protein in liver extracts from homozygous mutant mice. Spectrographic analysis showing a lack of urate oxidase activity in liver extracts, confirmed functional ablation in homozygous mutant mice.