A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.

@article{ONeal1993ASP,
  title={A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.},
  author={Wanda K. O'Neal and Paul Hasty and Paul B. McCray and Brett Casey and J A Rivera-P{\'e}rez and Michael J. Welsh and Arthur L Beaudet and Allan Bradley},
  journal={Human molecular genetics},
  year={1993},
  volume={2 10},
  pages={1561-9}
}
To develop an animal model for cystic fibrosis (CF), targeted gene disruption in embryonic stem (ES) cells was used to generate a duplication of exon 3 (cftrm1Bay allele) of the mouse CF gene. ES cells containing this mutation were used to generate chimeric animals that transmitted the mutant allele through the germline. Homozygous mutant animals display a severe phenotype, with approximately 40% dying within 1 week from intestinal obstruction. RNAase protection analysis of the cftrm1Bay allele… CONTINUE READING
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