Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
R Rozmahe, M Wilschanski, A Matin, S Plyte, M Oliver… - Nature …, 1996 - nature.com
R Rozmahe, M Wilschanski, A Matin, S Plyte, M Oliver, W Auerbach, A Moore, J Forstner…
Nature genetics, 1996•nature.comMice 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 …
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 …
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 Cftrm1HSC/Cftrm1HSC mice should provide important insight into the heterogeneous disease presentation observed among CF patients.
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