Gbe1^tm1.1Hoa
Targeted Allele Detail

Summary

• Symbol: Gbe1^tm1.1Hoa
• Name: 1,4-alpha-glucan branching enzyme 1; targeted mutation 1.1, H Orhan Akman
• MGI ID: MGI:5293612
• Synonyms: Gbe1^-
• Gene: Gbe1 Location: Chr16:70110837-70366604 bp, + strand Genetic Position: Chr16, 40.19 cM, cytoband C2
• Alliance: Gbe1^tm1.1Hoa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:176889
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An FRT site was inserted upstream of exon 7 and an floxed pgk-neo cassette and FRT site were inserted downstream of exon 7 via homologous recombination. Flp mediated recombination deleted exon 7 and the neo cassette. Western blot analysis confirmed the absence of protein expression in muscle extracts from homozygous mice at E17.5. (J:176889)

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results
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 Gbe1 Mutation: 47 strains or lines available

References

• Original: J:176889 Akman HO, et al., Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011 Nov 15;20(22):4430-9
• All: 1 reference(s)