Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis

Science. 1992 Aug 21;257(5073):1125-8. doi: 10.1126/science.257.5073.1125.

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes an adenosine 3',5'-monophosphate (cyclic AMP)-activated chloride channel. In cystic fibrosis (CF) patients, loss of CFTR function because of a genetic mutation results in defective cyclic AMP-mediated chloride secretion across epithelia. Because of their potential role as an animal model for CF, mice with targeted disruption of the murine CFTR gene [CFTR(-/-)] were tested for abnormalities in epithelial chloride transport. In both freshly excised tissue from the intestine and in cultured epithelia from the proximal airways, the cyclic AMP-activated chloride secretory response was absent in CFTR(-/-) mice as compared to littermate controls. Thus, disruption of the murine CFTR gene results in the chloride transport abnormalities predicted from studies of human CF epithelia.

Publication types

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

MeSH terms

  • Amiloride / pharmacology
  • Animals
  • Biological Transport
  • Cells, Cultured
  • Chlorides / metabolism*
  • Colforsin / pharmacology
  • Cyclic AMP / pharmacology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Disease Models, Animal*
  • Epithelium / metabolism
  • Intestinal Mucosa / metabolism
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Mutation
  • Nasal Mucosa / metabolism
  • Trachea / metabolism

Substances

  • Chlorides
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Colforsin
  • Amiloride
  • Cyclic AMP