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| Nomenclature |
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Symbol:
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Gbe1tm1Hoa
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Name:
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glucan (1,4-alpha-), branching enzyme 1;
targeted mutation 1, H Orhan Akman
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MGI ID: |
MGI:5293611 |
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Synonyms: |
Gbe1neo |
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Gene:
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Gbe1
Location:
Chr16:70313949-70569716 bp, + strand
Genetic Position: Chr16,
40.19 cM, cytoband C2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:176889
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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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. Western blot analysis of homozygous adults indicated reduced but detectable levels of protein expression. (J:176889)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gbe1 Mutation:
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1 strain or line available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
