title: Scnn1 sodium channel gene family in genetically engineered mice.
abstract: The amiloride-sensitive epithelial sodium channel is the limiting step in salt absorption. In mice, this channel is composed of three subunits (alpha, beta, and gamma), which are encoded by different genes (Scnn1a, Scnn1b, and Scnn1c, respectively). The functions of these genes were recently investigated in transgenic (knockout) experiments, and the absence of any subunit led to perinatal lethality. More defined phenotypes have been obtained by introducing specific mutations or using transgenic rescue experiments. In this report, these approaches are summarized and a current gene-targeting strategy to obtain conditional inactivation of the channel is illustrated. This latter approach will be indispensable for the investigation of channel function in a wide variety of organ systems.
authors.affiliation: Institut de Pharmacologie et de Toxicologie, Université de Lausanne, Lausanne, Switzerland. ehummler@pop-server.unil.ch
authors.forename: E
authors.initials: E
authors.lastname: Hummler
authors.forename: F
authors.initials: F
authors.lastname: Beermann
mesh_terms: D000818:Animals; D053503:Epithelial Sodium Channels; D018390:Gene Targeting; D005818:Genetic Engineering / Q000379:methods*; D051379:Mice; D018345:Mice, Knockout / Q000235:genetics; D008822:Mice, Transgenic / Q000235:genetics; D005810:Multigene Family; D009154:Mutation; D015222:Sodium Channels / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
chemical_list: D053503:Epithelial Sodium Channels; C507047:Scnn1a protein, mouse; C507049:Scnn1b protein, mouse; D015222:Sodium Channels