Gba1^tm2Ggb
Targeted Allele Detail

Summary

• Symbol: Gba1^tm2Ggb
• Name: glucosylceramidase beta 1; targeted mutation 2, Gregory A Grabowski
• MGI ID: MGI:2680322
• Synonyms: V394L
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^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)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site flanked neomycin resistance gene was inserted into intron 8 and a G-to-C point mutation was created at position 1320 (GenBank M24119) in exon 9 causing a V-to-L amino acid substitution at residue 412 (394 in mature protein) (p.V412L). The neo cassette was then removed through subsequent Cre-mediated recombination. (J:86334)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Gba1 Mutation: 47 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: 18 reference(s)