Somatic Cell and Molecular Genetics

, Volume 21, Issue 3, pp 177–187 | Cite as

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

  • Paul Hasty
  • Wanda K. O'Neal
  • Karen-Qianye Liu
  • Andrew P. Morris
  • Zsuzsa Bebok
  • Gleb B. Shumyatsky
  • Tamas Jilling
  • Eric J. Sorscher
  • Allan Bradley
  • Arthur L. Beaudet


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.


Stem Cell Cystic Fibrosis Embryonic Stem Embryonic Stem Cell Homologous Recombination 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Plenum Publishing Corporation 1995

Authors and Affiliations

  • Paul Hasty
    • 1
  • Wanda K. O'Neal
    • 2
  • Karen-Qianye Liu
    • 7
  • Andrew P. Morris
    • 3
  • Zsuzsa Bebok
    • 4
  • Gleb B. Shumyatsky
    • 1
  • Tamas Jilling
    • 6
  • Eric J. Sorscher
    • 4
    • 5
    • 6
  • Allan Bradley
    • 2
    • 7
  • Arthur L. Beaudet
    • 2
    • 7
  1. 1.Department of Biochemistry and Molecular BiologyThe University of Texas, M.D. Anderson Cancer CenterHouston
  2. 2.Department of Molecular and Human GeneticsBaylor College of Medicine, One Baylor PlazaHouston
  3. 3.Department of Physiology and Cell Biology/Internal Medicine-GastroenterologyThe University of Texas Health Science CenterHouston
  4. 4.Department of Physiology and BiophysicsThe University of Alabama at BirminghamBirmingham
  5. 5.Department of MedicineThe University of Alabama at BirminghamBirmingham
  6. 6.Cystic Fibrosis Research CenterThe University of Alabama at BirminghamBirmingham
  7. 7.Howard Hughes Medical InstituteBaylor College of MedicineHouston

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