Article: Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

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TitleModulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
AuthorsRozmahel, R2 4
Wilschanski, M1 4
Matin, A3
Plyte, S4
Oliver, M4
Auerbach, W4
Moore, A4
Forstner, J2 4
Durie, P2 4
Nadeau, J3
Bear, C1 4
Tsui, LC2 4
Issue Date1996
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
CitationNature Genetics, 1996, v. 12 n. 3, p. 280-287 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng0396-280
AbstractMice 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.
DescriptionErratum in Nature Genetics, 1996, v. 13 n. 1, p. 129
ISSN1061-4036
2011 Impact Factor: 35.532
2011 SCImago Journal Rankings: 8.923
DOIhttp://dx.doi.org/10.1038/ng0396-280
ISI Accession Number IDWOS:A1996TY18300017
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorRozmahel, R
dc.contributor.authorWilschanski, M
dc.contributor.authorMatin, A
dc.contributor.authorPlyte, S
dc.contributor.authorOliver, M
dc.contributor.authorAuerbach, W
dc.contributor.authorMoore, A
dc.contributor.authorForstner, J
dc.contributor.authorDurie, P
dc.contributor.authorNadeau, J
dc.contributor.authorBear, C
dc.contributor.authorTsui, LC
dc.date.accessioned2007-09-12T03:50:52Z
dc.date.available2007-09-12T03:50:52Z
dc.date.issued1996
dc.description.abstractMice 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.
dc.description.natureabstract
dc.descriptionErratum in Nature Genetics, 1996, v. 13 n. 1, p. 129
dc.identifier.citationNature Genetics, 1996, v. 12 n. 3, p. 280-287 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ng0396-280
dc.identifier.doihttp://dx.doi.org/10.1038/ng0396-280
dc.identifier.epage287
dc.identifier.isiWOS:A1996TY18300017
dc.identifier.issn1061-4036
2011 Impact Factor: 35.532
2011 SCImago Journal Rankings: 8.923
dc.identifier.issue3
dc.identifier.pmid8589719
dc.identifier.scopuseid_2-s2.0-13344282728
dc.identifier.spage280
dc.identifier.urihttp://hdl.handle.net/10722/44297
dc.identifier.volume12
dc.languageeng
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
dc.publisher.placeUnited States
dc.relation.ispartofNature Genetics
dc.relation.referencesReferences in Scopus
dc.subject.meshChlorides - metabolism
dc.subject.meshCystic fibrosis - genetics - pathology - physiopathology
dc.subject.meshCystic fibrosis transmembrane conductance regulator - deficiency - genetics
dc.subject.meshIleum - pathology
dc.subject.meshDisease models, animal
dc.titleModulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
dc.typeArticle
Author Affiliations
  1. University of Toronto, Faculty of Medicine
  2. University of Toronto
  3. McGill University
  4. Hospital for Sick Children, Toronto