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| Nomenclature |
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Symbol:
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Gusbtm1Sly
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Name:
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glucuronidase, beta;
targeted mutation 1, William S Sly
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MGI ID: |
MGI:2451059 |
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Synonyms: |
Gustm(E536A)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:81792
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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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Mutation: | |
Nucleotide substitutions |
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Mutation details: Site directed mutagenesis was used to introduce a glutamic acid to alanine substitution at residue 536 (E536A) of exon 10. This mutation corresponds to E540A, an active-site nucleophile replacement mutation found in human GUS deficiency. (J:81792)
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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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| References |
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Original: |
J:81792
Tomatsu S et al.,
"Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis."
Proc Natl Acad Sci U S A 2002 Nov 12;99(23):14982-7
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All: |
2 reference(s)
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Analysis Tools
