Gck^Rgsc475
Chemically induced Allele Detail

Summary

• Symbol: Gck^Rgsc475
• Name: glucokinase; RIKEN Genomic Sciences Center (GSC), 475
• MGI ID: MGI:3033226
• Synonyms: early onset diabetes, 5 RIKEN GSC, Gck^5Rgsc, Gck^Y273Stop, M-475, Rgsc475
• Gene: Gck Location: Chr11:5850820-5900081 bp, - strand Genetic Position: Chr11, 3.88 cM
• Alliance: Gck^Rgsc475 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: C to A transversion in exon 7 results in a nonsense mutation and changes a Tyrosine into a stop at amino acid 273. Real time PCR and immunoblotting found decreased liver Gck mRNA, protein expression and Gck activity were reduced. (J:88919, J:137483)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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)