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    Science. 1992 Aug 21;257(5073):1083-8.

    An animal model for cystic fibrosis made by gene targeting.

    Snouwaert JN, Brigman KK, Latour AM, Malouf NN, Boucher RC, Smithies O, Koller BH.

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    Department of Medicine, University of North Carolina, Chapel Hill 27599-7020.

    Abstract

    Cystic fibrosis results from defects in the gene encoding a cyclic adenosine monophosphate-dependent chloride ion channel known as the cystic fibrosis transmembrane conductance regulator (CFTR). To create an animal model for cystic fibrosis, mice were generated from embryonic stem cells in which the CFTR gene was disrupted by gene targeting. Mice homozygous for the disrupted gene display many features common to young human cystic fibrosis patients, including failure to thrive, meconium ileus, alteration of mucous and serous glands, and obstruction of glandlike structures with inspissated eosinophilic material. Death resulting from intestinal obstruction usually occurs before 40 days of age.

    PMID:
    1380723
    [PubMed - indexed for MEDLINE]

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