Deletion of nicotinamide nucleotide transhydrogenase: a new quantitive trait locus accounting for glucose intolerance in C57BL/6J mice

Diabetes. 2006 Jul;55(7):2153-6. doi: 10.2337/db06-0358.

Abstract

The C57BL/6J mouse displays glucose intolerance and reduced insulin secretion. The genetic locus underlying this phenotype was mapped to nicotinamide nucleotide transhydrogenase (Nnt) on mouse chromosome 13, a nuclear-encoded mitochondrial protein involved in beta-cell mitochondrial metabolism. C57BL/6J mice have a naturally occurring in-frame five-exon deletion in Nnt that removes exons 7-11. This results in a complete absence of Nnt protein in these mice. We show that transgenic expression of the entire Nnt gene in C57BL/6J mice rescues their impaired insulin secretion and glucose-intolerant phenotype. This study provides direct evidence that Nnt deficiency results in defective insulin secretion and inappropriate glucose homeostasis in male C57BL/6J mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blood Glucose / metabolism
  • Chromosomes, Artificial, Bacterial
  • Exons
  • Glucose Intolerance / enzymology
  • Glucose Intolerance / genetics*
  • Insulin / blood
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • NADP Transhydrogenases / deficiency
  • NADP Transhydrogenases / genetics*
  • Quantitative Trait Loci*
  • Sequence Deletion

Substances

  • Blood Glucose
  • Insulin
  • NADP Transhydrogenases