Gba1^tm1.1Smoc
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1.1Smoc
• Name: glucosylceramidase beta 1; targeted mutation 1.1, Shanghai Model Organisms Center
• MGI ID: MGI:7484418
• Synonyms: Gba1^F213I
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1.1Smoc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:325557
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6JSmoc

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 5-7 (and intervening introns) were replaced with the human equivalents where exon 6 has a p.Phe252Ile (or p.F213I) mutation (NM_000157.4:c.754T>A). The FRT site flanked neomycin resistance gene cassette that was inserted was removed through subsequent Flp-mediated recombination. The human mutation is associated with Gaucher disease (GD). (J:325557)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Gba1 Mutation: 47 strains or lines available

References

• Original: J:325557 Guo JN, et al., Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation. Front Genet. 2022;13:892457
• All: 1 reference(s)