A mouse model for the delta F508 allele of cystic fibrosis

J Clin Invest. 1995 Oct;96(4):2051-64. doi: 10.1172/JCI118253.

Abstract

The most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is misprocessed and degraded rather than traveling to the apical membrane. We used a novel strategy to introduce the delta F508 mutation into the mouse CFTR gene. Affected epithelia from homozygous delta F508 mice lacked CFTR in the apical membrane and were Cl-impermeable. These abnormalities are the same as those observed in patients with delta F508 and suggest that these mice have the same cellular defect. 40% of homozygous delta F508 animals survived into adulthood and displayed several abnormalities found in human disease and in CFTR null mice. These animals should provide an excellent model to investigate pathogenesis and to examine therapies directed at correcting the delta F508 defect.

Publication types

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

MeSH terms

  • Alleles*
  • Animals
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Digestive System / metabolism
  • Digestive System / pathology
  • Disease Models, Animal
  • Electrolytes / metabolism
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation
  • Pancreatic Ducts / metabolism
  • RNA, Messenger / analysis

Substances

  • CFTR protein, human
  • Electrolytes
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator