Gck^Rgsc392
Chemically induced Allele Detail

Summary

• Symbol: Gck^Rgsc392
• Name: glucokinase; RIKEN Genomic Sciences Center (GSC), 392
• MGI ID: MGI:3033225
• Synonyms: early onset diabetes, 4 RIKEN GSC, Gck^4Rgsc, Gck^V182M, M-392, Rgsc392
• Gene: Gck Location: Chr11:5850820-5900081 bp, - strand Genetic Position: Chr11, 3.88 cM
• Alliance: Gck^Rgsc392 page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• 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)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gck Mutation: 63 strains or lines available

References

• 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
• All: 2 reference(s)