Gba^tm2Ggb
Targeted Allele Detail

Summary

• Symbol: Gba^tm2Ggb
• Name: glucosidase, beta, acid; targeted mutation 2, Gregory A Grabowski
• MGI ID: MGI:2680322
• Synonyms: V394L
• Gene: Gba Location: Chr3:89110223-89116180 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba^tm2Ggb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86334
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S5/SvEvBrd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: A floxed PGK-neomycin resistance gene was inserted into intron 8 and an G to C point mutation was inserted at position 1320 (GenBank M24119) in exon 9 causing a V to L amino acid substitution at residue 394 (V394L). The neomycin gene was then removed using a protamine promoter driven cre recombinase transgene active in spermatogonia of male chimeric mice. (J:86334)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structures

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gba Mutation: 34 strains or lines available

References

• Original: J:86334 Xu YH, et al., Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol. 2003 Nov;163(5):2093-101
• All: 17 reference(s)