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Gbatm1.1Mjff
Targeted Allele Detail
Nomenclature
Symbol: Gbatm1.1Mjff
Name: glucosidase, beta, acid; targeted mutation 1.1, The Michael J Fox Foundation
MGI ID: MGI:5461046
Synonyms: Gba1D409V, Gbatm1(D427V)Mjff
Gene: Gba  Location: Chr3:89110223-89116180 bp, + strand  Genetic Position: Chr3, 39.01 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Gba Mutation:  34 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:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory