Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-03

AUTHORS

R Rozmahel, M Wilschanski, A Matin, S Plyte, M Oliver, W Auerbach, A Moore, J Forstner, P Durie, J Nadeau, C Bear, L C Tsui

ABSTRACT

Mice that have been made deficient for the cystic fibrosis transmembrane conductance regulator (Cftr) usually die of intestinal obstruction. We have created Cftr-deficient mice and demonstrate prolonged survival among backcross and intercross progeny with different inbred strains, suggesting that modulation of disease severity is genetically determined. A genome scan showed that the major modifier locus maps near the centromere of mouse chromosome 7. Electrophysiological studies on mice with prolonged survival show that the partial rectification of Cl- and Na+ ion transport abnormalities can be explained in part by up-regulation of a calcium-activated Cl- conductance. Identification of modifier genes in our Cftr(m1HSC)/Cftr(m1HSC) mice should provide important insight into the heterogeneous disease presentation observed among CF patients. More... »

PAGES

280-287

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0396-280

DOI

http://dx.doi.org/10.1038/ng0396-280

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037339604

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8589719


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