Gbe1^tm2.1Hoa
Targeted Allele Detail

Summary

• Symbol: Gbe1^tm2.1Hoa
• Name: 1,4-alpha-glucan branching enzyme 1; targeted mutation 2.1, H Orhan Akman
• MGI ID: MGI:5767122
• Synonyms: Gbe1^ys
• Gene: Gbe1 Location: Chr16:70110837-70366604 bp, + strand Genetic Position: Chr16, 40.19 cM, cytoband C2
• Alliance: Gbe1^tm2.1Hoa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226481
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: The p.Y329S mutation (TAC to TCC change) was knocked into exon 7 and FRT sites were introduced upstream and downstream of exon 7 via homologous recombination. The loxP-flanked PGK-neomycin cassette inserted downstream of exon 7 but before the FRT site was removed via cre-mediated recombination. Western blot analysis indicates a significant reduction of protein in muscle. (J:226481)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Gbe1 Mutation: 47 strains or lines available

References

• Original: J:226481 Orhan Akman H, et al., A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 1;24(23):6801-10
• All: 4 reference(s)