Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene.

Academic Article


  • Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.
  • Published In


  • Animals, Base Sequence, Chlorides, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA, Exons, Immunohistochemistry, Intestinal Mucosa, Ion Transport, Mice, Mice, Mutant Strains, Molecular Sequence Data, Mutation, Phenotype, RNA, Messenger, Salivary Glands, Terminator Regions, Genetic
  • Author List

  • Hasty P; O'Neal WK; Liu KQ; Morris AP; Bebok Z; Shumyatsky GB; Jilling T; Sorscher EJ; Bradley A; Beaudet AL
  • Start Page

  • 177
  • End Page

  • 187
  • Volume

  • 21
  • Issue

  • 3