Generation and characterization of a delta F508 cystic fibrosis mouse model

Nat Genet. 1995 Aug;10(4):445-52. doi: 10.1038/ng0895-445.

Abstract

We have generated mice carrying the most common mutation in cystic fibrosis (CF), delta F508, within the cystic fibrosis (Cftr) gene. Mutant animals show pathological and electrophysiological changes consistent with a CF phenotype. delta F508-/- mice die from peritonitis and show deficiencies in cAMP-activated electrogenic Cl- transport. These mice produce delta F508 transcripts and show the temperature-dependent trafficking defect first described for the human delta F508 CFTR protein. A functional CFTR Cl- channel not demonstrated by null CF mice or present at 37 degrees C was detected following incubation of epithelial cells at 27 degrees C. Thus, these mice are an accurate delta F508 model and will be valuable for testing drugs aimed at overcoming the delta F508 trafficking defect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Cells, Cultured
  • Chloride Channels / metabolism
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Disease Models, Animal
  • Electrophysiology
  • Membrane Proteins / genetics
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics
  • Temperature

Substances

  • Chloride Channels
  • Membrane Proteins
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA