Gba1^tm1.1Mjff
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1.1Mjff
• Name: glucosylceramidase beta 1; targeted mutation 1.1, The Michael J Fox Foundation
• MGI ID: MGI:5461046
• Synonyms: Gba1^D409V, Gba^{tm1(D427V)Mjff}
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1.1Mjff page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:306537
• Parent Cell Line: ART B6 3.6 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting vector containing a FRT site flanked NEO cassette, and a F3 FRT site flanked PurO cassette was used to introduce the D427V point mutation into exon 10. D427V corresponds to the human D409V mutation. The FRT site flanked NEO cassette was inserted into intron 5 and the F3 FRT site flanked PurO cassette was inserted into intron 8. In addition, loxP sites were inserted to flank exons 6 through 8. Flp-mediated recombination removed the neo cassette. (J:306537)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gba1 Mutation: 47 strains or lines available

References

• Original: J:306537 Polinski NK, et al., Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model. PLoS One. 2021;16(6):e0252325
• All: 14 reference(s)