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| Nomenclature |
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Symbol:
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Gusbtm4Sly
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Name:
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glucuronidase, beta;
targeted mutation 4, William S Sly
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MGI ID: |
MGI:2661042 |
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Synonyms: |
Gustm(hE540A.mE536A)Sly |
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Gene:
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Gusb
Location:
Chr5:129989011-130003049 bp, - strand
Genetic Position: Chr5,
68.32 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:83169
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Molecular techniques were employed to generate an allele containing E536A in exon 10 and a cDNA sequence encoding an inactive form of human GUS in intron 9. The human cDNA contained the E540A missense mutation. Inactive forms of both human and murine protein were produced, resulting in mutant mice that possess immunologic tolerance to both human and murine wild-type enzymes. (J:83169)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gusb Mutation:
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23 strains or lines available |
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| References |
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Original: |
J:83169
Tomatsu S et al.,
"Production of MPS VII mouse (Gus(tm(hE540A.mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase."
Hum Mol Genet 2003 May 1;12(9):961-73
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All: |
2 reference(s)
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Analysis Tools
