Spontaneous mutation in the db gene results in obesity and diabetes in CD-1 outbred mice

Am J Physiol Regul Integr Comp Physiol. 2000 Feb;278(2):R320-30. doi: 10.1152/ajpregu.2000.278.2.R320.

Abstract

Five allelic mutants of the diabetes (db) gene have been previously described in mice and rats causing obesity, infertility, and varying degrees of diabetes. We have identified a new, spontaneous mutation resulting in obesity and diabetes in a colony of CD-1 outbred mice, Mus musculus domesticus. Genetic complementation studies indicated that the new mutation was an allele of the diabetes locus. Sequence analysis of cDNA fragments showed a deletion of one G residue located in exon 12 of the leptin receptor gene. The mutation, Lepr(db-NCSU), results in a frameshift and reduces Lepr transcript levels 10-fold. Mutant mice drank up to four times more water and were up to two times heavier than wild-type mice. Blood glucose and plasma insulin and leptin concentrations were sexually dimorphic among affected mice, suggesting an effect of sex steroids. Mortality of affected males was 100% by 5 mo, whereas affected females survived up to 10 mo of age.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Base Sequence / genetics
  • Carrier Proteins / genetics*
  • Carrier Proteins / physiology
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / physiopathology
  • Drinking
  • Eating
  • Gases / blood
  • Gene Expression / physiology
  • Insulin / blood
  • Insulin / physiology
  • Leptin / blood
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Obesity / genetics*
  • Receptors, Cell Surface*
  • Receptors, Leptin

Substances

  • Carrier Proteins
  • Gases
  • Insulin
  • Leptin
  • Receptors, Cell Surface
  • Receptors, Leptin

Associated data

  • GENBANK/AF152957