Gusb^tm3Sly
Targeted Allele Detail

Summary

• Symbol: Gusb^tm3Sly
• Name: glucuronidase, beta; targeted mutation 3, William S Sly
• MGI ID: MGI:2451061
• Synonyms: Gus^tm(L175F)Sly
• Gene: Gusb Location: Chr5:130017852-130031890 bp, - strand Genetic Position: Chr5, 68.32 cM
• Alliance: Gusb^tm3Sly page

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 details: Site 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 44 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: 2 reference(s)