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| Nomenclature |
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Symbol:
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GckRgsc392
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Name:
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glucokinase;
RIKEN Genomic Sciences Center (GSC), 392
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MGI ID: |
MGI:3033225 |
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Synonyms: |
early onset diabetes, 4 RIKEN GSC, Gck4Rgsc, GckV182M, M-392, Rgsc392 |
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Gene:
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Gck
Location:
Chr11:5900820-5950081 bp, - strand
Genetic Position: Chr11,
3.88 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: G to A transition in exon 5 results in a missense mutation and substitution of methionine for valine at amino acid 182. Real time PCR and immunoblotting found no change in liver Gck mRNA and protein expression however liver Gck activity was reduced. This same mutation is found in human MODY2 patients (J:88919, J:137483)
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Inheritance: | |
Dominant |
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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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| References |
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Original: |
J:88919
Inoue M et al.,
"A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program."
Hum Mol Genet 2004 Jun 1;13(11):1147-57
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All: |
2 reference(s)
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Analysis Tools
