Investigation of pathogenic mechanism of diabetes using novel mutant mice presenting with beta-cell dysfunction

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N-ethyl-N-nitrosourea(ENU) is an effective chemical mutagen that mainly introduces single base pair changes. In RKEN ENU mutagenesis project, we have established a severely diabetic mutant line presenting with severe beta-cell dysfunction. Through mapping analyses and sequencing of all exons in the fine-mapped region, we identified single missense mutation(N425K) in Srpr gene. Srpr is a key regulator of nascent chain transportation in endoplasmic reticulum(ER). Out results firstly show that dysfunction of ER export can lead to destruction of insulin-producing beta cells and pathogenesis of diabetes.