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An animal model for cystic fibrosis made by gene targeting

J N Snouwaert1, K K Brigman, A M Latour

  • 1Department of Medicine, University of North Carolina, Chapel Hill 27599-7020.

Science (New York, N.Y.)
|August 21, 1992
PubMed

Insights

Researchers created a cystic fibrosis mouse model by disrupting the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mice exhibit key human CFTR disease features, including intestinal obstruction and failure to thrive, proving useful for studying the condition.

Area of Science:

  • Genetics
  • Physiology
  • Animal Models

Background:

  • Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel.
  • Understanding CFTR gene function is crucial for developing effective cystic fibrosis treatments.

Purpose of the Study:

  • To establish a mouse model that accurately replicates human cystic fibrosis.
  • To investigate the physiological consequences of CFTR gene disruption in vivo.

Main Methods:

  • Gene targeting was employed to disrupt the CFTR gene in mouse embryonic stem cells.
  • Homozygous CFTR-disrupted mice were generated and analyzed for phenotypic characteristics.

Main Results:

  • Mice homozygous for the disrupted CFTR gene exhibited failure to thrive, a common symptom in young cystic fibrosis patients.
  • These mice displayed meconium ileus and alterations in mucous and serous glands, consistent with human cystic fibrosis.
  • Intestinal obstruction due to inspissated material in glandlike structures led to mortality before 40 days of age.

Conclusions:

  • The CFTR-disrupted mouse is a valuable animal model for studying cystic fibrosis.
  • This model recapitulates key pathological features of human cystic fibrosis, aiding research into disease mechanisms and therapeutic strategies.

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