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We wish to construct a mouse model for the human inherited disease cystic fibrosis. We describe here the successful targeting in embryonal stem cells of the murine homologue (Cftr) of the cystic fibrosis transmembrane conductance regulator gene, as the first critical step towards this end. The targeting event precisely disrupts exon 10, the site of the major mutation in patients with cystic fibrosis. The targeted cells are pluripotent and competent to form chimaeras.

Type

Journal article

Journal

Transgenic Res

Publication Date

03/1992

Volume

1

Pages

101 - 105

Keywords

Animals, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Disease Models, Animal, Embryo, Mammalian, Exons, Humans, Membrane Proteins, Mice, Mice, Transgenic, Restriction Mapping, Stem Cells