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Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.
Nat Genet 1996; 12(3):280-7NGen

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.

Authors+Show Affiliations

Department of Molecular Genetics, The University of Toronto, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8589719

Citation

Rozmahel, R, et al. "Modulation of Disease Severity in Cystic Fibrosis Transmembrane Conductance Regulator Deficient Mice By a Secondary Genetic Factor." Nature Genetics, vol. 12, no. 3, 1996, pp. 280-7.
Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 1996;12(3):280-7.
Rozmahel, R., Wilschanski, M., Matin, A., Plyte, S., Oliver, M., Auerbach, W., ... Tsui, L. C. (1996). Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genetics, 12(3), pp. 280-7.
Rozmahel R, et al. Modulation of Disease Severity in Cystic Fibrosis Transmembrane Conductance Regulator Deficient Mice By a Secondary Genetic Factor. Nat Genet. 1996;12(3):280-7. PubMed PMID: 8589719.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. AU - Rozmahel,R, AU - Wilschanski,M, AU - Matin,A, AU - Plyte,S, AU - Oliver,M, AU - Auerbach,W, AU - Moore,A, AU - Forstner,J, AU - Durie,P, AU - Nadeau,J, AU - Bear,C, AU - Tsui,L C, PY - 1996/3/1/pubmed PY - 1996/3/1/medline PY - 1996/3/1/entrez SP - 280 EP - 7 JF - Nature genetics JO - Nat. Genet. VL - 12 IS - 3 N2 - 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. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8589719/Modulation_of_disease_severity_in_cystic_fibrosis_transmembrane_conductance_regulator_deficient_mice_by_a_secondary_genetic_factor_ L2 - http://dx.doi.org/10.1038/ng0396-280 DB - PRIME DP - Unbound Medicine ER -