Cystic fibrosis in the mouse by targeted insertional mutagenesis
摘要：
Cystic fibrosis is a fatal genetic disorder which afflicts 50,000 people worldwide. A viable animal model would be invaluable for investigating and combating this disease. The mouse cystic fibrosis transmembrane conductance regulator gene was disrupted in embryonal stem cells using an insertional gene targeting vector. Germ-line chimaeras were derived and the offspring of heterozygous crosses studied. These homozygous mutant mice survive beyond weaning. In vivo electrophysiology demonstrates the predicted defect in chloride ion transport in these mice and can distinguish between each genotype. Histological analysis detects important hallmarks of human disease pathology, including abnormalities of the colon, lung and vas deferens. This insertional mouse mutation provides a valid model system for the development and testing of therapies for cystic fibrosis patients.
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关键词：
MANIFOLD WITH BOUNDARY HOMOGENEOUS N-HOMOGENEOUS COUNTABLE DENSE HOMOGENEOUS STRONGLY N-HOMOGENEOUS STRONGLY LOCALLY HOMOGENEOUS EPSILON-COUNTABLE DENSE HOMOGENEOUS EPSILON-DENSELY HOMOGENEOUS
DOI：
10.1038/359211a0
被引量：
年份：
1992
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掌桥科研
万方医学
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