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

doi:10.1038/ng0593-35

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Article

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

Nature genetics - 1 May 1993

Ratcliff R, Evans M J, Cuthbert A W, MacVinish L J, Foster D, Anderson J R, Colledge W H

Abstract excerpt

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 nu...

Topics

Animals
Blastocyst
Chimera
Chloride Channels
Codon
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Disease Models, Animal
Genes, Synthetic
Hypoxanthine Phosphoribosyltransferase
Lacrimal Apparatus
Membrane Proteins
Mice
Mice, Inbred C57BL
Mutagenesis, Insertional
Mutagenesis, Site-Directed
Phenotype
Stem Cells

Source

Open in PubMed

Identifiers

PMID: 7685652
DOI: 10.1038/ng0593-35

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7685652-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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