Allele/Variant

GckRgsc392

Species
Mus musculus
Symbol
GckRgsc392
Category
allele
Allele of gene
Gck
Transgenic Constructs
None
Synonyms
  • early onset diabetes, 4 RIKEN GSC
  • Gck4Rgsc
Description
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
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations