An animal model for cystic fibrosis made by gene targeting.
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.
Snouwaert
J N
JN
Department of Medicine, University of North Carolina, Chapel Hill 27599-7020.
Brigman
K K
KK
Latour
A M
AM
Malouf
N N
NN
Boucher
R C
RC
Smithies
O
O
Koller
B H
BH
D000818:Animals; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004064:Digestive System / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D005088:Exocrine Glands / Q000473:pathology; D005704:Gallbladder / Q000473:pathology; D005837:Genitalia, Male / Q000473:pathology; D005838:Genotype; D006128:Growth; D007415:Intestinal Obstruction / Q000209:etiology / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D008470:Meconium / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D009093:Mucus / Q000378:metabolism; D016296:Mutagenesis; D010179:Pancreas / Q000473:pathology; D012333:RNA, Messenger / Q000378:metabolism; D012469:Salivary Glands / Q000473:pathology
D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator