| First Author | Rozmahel R | Year | 1996 |
| Journal | Nat Genet | Volume | 12 |
| Issue | 3 | Pages | 280-7 |
| PubMed ID | 8589719 | Mgi Jnum | J:31759 |
| Mgi Id | MGI:79245 | Doi | 10.1038/ng0396-280 |
| Citation | Rozmahel R, et al. (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor [published erratum appears in Nat Genet 1996 May;13(1):129]. Nat Genet 12(3):280-7 |
| abstractText | 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. |
