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| Nomenclature |
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Symbol:
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Uoxtm1Bay
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Name:
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urate oxidase;
targeted mutation 1, Baylor College of Medicine
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MGI ID: |
MGI:1857266 |
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Gene:
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Uox
Location:
Chr3:146597077-146632305 bp, + strand
Genetic Position: Chr3,
72.09 cM
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Pathology of urate neophropathy in Uoxtm1Bay/Uoxtm1Bay mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:16490
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: 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. (J:16490)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Hyperuricemic Nephropathy (J:16490)
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
