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Targeted Allele Detail
Symbol: Uoxtm1Bay
Name: urate oxidase; targeted mutation 1, Baylor College of Medicine
MGI ID: MGI:1857266
Gene: Uox  Location: Chr3:146570426-146632305 bp, + strand  Genetic Position: Chr3, 72.09 cM
Pathology of urate neophropathy in Uoxtm1Bay/Uoxtm1Bay mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:16490
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsThe 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. (J:16490)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Uox Mutation:  3 strains or lines available
Phenotypic Similarity to Human Syndrome: Hyperuricemic Nephropathy (J:16490)

Original:  J:16490 Wu X, et al., Hyperuricemia and urate nephropathy in urate oxidase-deficient mice. Proc Natl Acad Sci U S A. 1994 Jan 18;91(2):742-6
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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