[HTML][HTML] Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis

X Sun, H Sui, JT Fisher, Z Yan, X Liu… - The Journal of …, 2010 - Am Soc Clin Investig
X Sun, H Sui, JT Fisher, Z Yan, X Liu, HJ Cho, NS Joo, Y Zhang, W Zhou, Y Yi, JM Kinyon…
The Journal of clinical investigation, 2010Am Soc Clin Investig
Cystic fibrosis (CF) is a recessive disease that affects multiple organs. It is caused by
mutations in CFTR. Animal modeling of this disease has been challenging, with species-and
strain-specific differences in organ biology and CFTR function influencing the emergence of
disease pathology. Here, we report the phenotype of a CFTR-knockout ferret model of CF.
Neonatal CFTR-knockout ferrets demonstrated many of the characteristics of human CF
disease, including defective airway chloride transport and submucosal gland fluid secretion; …
Cystic fibrosis (CF) is a recessive disease that affects multiple organs. It is caused by mutations in CFTR. Animal modeling of this disease has been challenging, with species- and strain-specific differences in organ biology and CFTR function influencing the emergence of disease pathology. Here, we report the phenotype of a CFTR-knockout ferret model of CF. Neonatal CFTR-knockout ferrets demonstrated many of the characteristics of human CF disease, including defective airway chloride transport and submucosal gland fluid secretion; variably penetrant meconium ileus (MI); pancreatic, liver, and vas deferens disease; and a predisposition to lung infection in the early postnatal period. Severe malabsorption by the gastrointestinal (GI) tract was the primary cause of death in CFTR-knockout kits that escaped MI. Elevated liver function tests in CFTR-knockout kits were corrected by oral administration of ursodeoxycholic acid, and the addition of an oral proton-pump inhibitor improved weight gain and survival. To overcome the limitations imposed by the severe intestinal phenotype, we cloned 4 gut-corrected transgenic CFTR-knockout kits that expressed ferret CFTR specifically in the intestine. One clone passed feces normally and demonstrated no detectable ferret CFTR expression in the lung or liver. The animals described in this study are likely to be useful tools for dissecting CF disease pathogenesis and developing treatments.
The Journal of Clinical Investigation