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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Production of a severe cystic fibrosis mutation in mice by gene targeting.

We have used gene targeting in embryonic stem cells to introduce an HPRT mini-gene into the coding sequence of the murine cystic fibrosis gene (cftr). This insertion introduces a termination codon in frame with the cftr coding sequence to terminate prematurely the CFTR protein within the first nucleotide binding domain. Animals homozygous for the cftr disruption fail to thrive and display a range of symptoms including meconium ileus, distal intestinal obstructions, gastrointestinal mucus accumulation and blockage of pancreatic ducts. The animals also show lacrimal gland pathology. Tracheal and caecal transepithelial current measurements demonstrate the lack of a cAMP activatable Cl- channel. These animals will prove useful for the evaluation of new therapeutic drugs and gene therapy strategies.[1]


  1. Production of a severe cystic fibrosis mutation in mice by gene targeting. Ratcliff, R., Evans, M.J., Cuthbert, A.W., MacVinish, L.J., Foster, D., Anderson, J.R., Colledge, W.H. Nat. Genet. (1993) [Pubmed]
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