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

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)177-187
Number of pages11
JournalSomatic Cell and Molecular Genetics
Volume21
Issue number3
DOIs
StatePublished - May 1995

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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