A mouse model for the cystic fibrosis delta F508 mutation

EMBO J. 1995 Sep 15;14(18):4403-11. doi: 10.1002/j.1460-2075.1995.tb00119.x.

Abstract

Most cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transmembrane conductance regulator (CFTR), which is not properly processed in normal cells but is active as a chloride channel in several experimental systems. We used a double homologous recombination ('Hit and Run') procedure to generate a mouse model for the delta F508 mutation. Targeted embryonic stem (ES) cells (Hit clones) were found; of these either 80 or 20% of the clones had lost the delta F508 mutation, depending on the distance between the linearization site in the targeting construct and the delta F508 mutation. Correctly targeted clones underwent a second selection step resulting in ES cell clones (Run clones) heterozygous for the delta F508 mutation with an efficiency of 2-7%. Chimeric mice were generated and offspring homozygous for the delta F508 mutation showed electrophysiological abnormalities in nasal epithelium, gallbladder and in the intestine, and histological abnormalities in the intestine, typical of CF. Our data suggest that the delta F508 mice have residual delta F508 CFTR activity which would explain the mild pathology of the delta F508 mice. The delta F508 mouse may provide a useful model for the study of the processing defect of delta F508 CFTR and for the development of novel therapeutic approaches based on circumvention of the processing block.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Clone Cells
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Disease Models, Animal*
  • Exons / genetics
  • Gallbladder / physiopathology
  • Gene Targeting
  • Heterozygote
  • Homozygote
  • Intestine, Small / physiopathology
  • Mice
  • Mice, Mutant Strains*
  • Molecular Sequence Data
  • Mutation*
  • Nasal Mucosa / physiopathology
  • Phenotype
  • Sequence Deletion
  • Stem Cells

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator