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Targeted Allele Detail
Symbol: Gbe1tm1.1Hoa
Name: glucan (1,4-alpha-), branching enzyme 1; targeted mutation 1.1, H Orhan Akman
MGI ID: MGI:5293612
Synonyms: Gbe1-
Gene: Gbe1  Location: Chr16:70313949-70569716 bp, + strand  Genetic Position: Chr16, 40.19 cM, cytoband C2
Germline Transmission:  Earliest citation of germline transmission: J:176889
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsAn 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  16 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.04
The Jackson Laboratory