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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1996-5-17
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pubmed:abstractText |
We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mice show greatly reduced CFTR-related chloride transport, displaying activity intermediate between that of cftr(mlUNC) replacement ('null') and cftr(mlHGU) insertional (residual activity) mutants and equivalent to approximately 4% of wild-type CFTR activity. The long-term survival of these animals should provide an excellent model with which to study cystic fibrosis, and they illustrate the value of mouse models carrying relevant mutations for examining genotype-phenotype correlations.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-1379413,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-1382232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-1712898,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-1720548,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-1722350,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-19979740,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-3194019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-3862125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7504552,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7515188,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7518829,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7522329,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7523956,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7527588,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7540910,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7681548,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7686820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7691345,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7691356,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8605891-7949729
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0261-4189
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pubmed:author |
pubmed-author:AltonE WEW,
pubmed-author:DelaneyS JSJ,
pubmed-author:DorinJ RJR,
pubmed-author:FarleyRR,
pubmed-author:HumeD ADA,
pubmed-author:LambDD,
pubmed-author:LovelockP KPK,
pubmed-author:LunnD PDP,
pubmed-author:PorteousD JDJ,
pubmed-author:SmithS NSN,
pubmed-author:ThomsonS ASA,
pubmed-author:WainwrightB JBJ
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
955-63
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pubmed:dateRevised |
2010-9-13
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pubmed:meshHeading |
pubmed-meshheading:8605891-Animals,
pubmed-meshheading:8605891-Animals, Newborn,
pubmed-meshheading:8605891-Base Sequence,
pubmed-meshheading:8605891-Chlorides,
pubmed-meshheading:8605891-Cystic Fibrosis,
pubmed-meshheading:8605891-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:8605891-DNA Primers,
pubmed-meshheading:8605891-Disease Models, Animal,
pubmed-meshheading:8605891-Electrophysiology,
pubmed-meshheading:8605891-Gene Targeting,
pubmed-meshheading:8605891-Genotype,
pubmed-meshheading:8605891-Humans,
pubmed-meshheading:8605891-Intestinal Obstruction,
pubmed-meshheading:8605891-Ion Transport,
pubmed-meshheading:8605891-Meconium,
pubmed-meshheading:8605891-Mice,
pubmed-meshheading:8605891-Mice, Transgenic,
pubmed-meshheading:8605891-Molecular Sequence Data,
pubmed-meshheading:8605891-Nasal Cavity,
pubmed-meshheading:8605891-Phenotype,
pubmed-meshheading:8605891-Point Mutation
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pubmed:year |
1996
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pubmed:articleTitle |
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
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pubmed:affiliation |
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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