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Gusbtm3Sly
Targeted Allele Detail
Nomenclature
Symbol: Gusbtm3Sly
Name: glucuronidase, beta; targeted mutation 3, William S Sly
MGI ID: MGI:2451061
Synonyms: Gustm(L175F)Sly
Gene: Gusb  Location: Chr5:129989011-130003049 bp, - strand  Genetic Position: Chr5, 68.32 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:81792
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsSite directed mutagenesis was used to introduce a leucine to phenylalanine subsitution at residue 175 (L175F) of exon 2. This mutation corresponds to L176F, the most common mutation found in human GUS deficiency. (J:81792)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
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 Gusb Mutation:  22 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory