Abstract: The present invention relates to a test system for the identification and testing of active compounds which act on synapic transmission (active compounds for treatment of neuronal diseases), which influence endo/exocytosis, which influence processing of proteins and in particular of active compounds which can be used for treatment of osteoporosis or Paget's disease, for treatment of neurological and neuromuscular diseases and other nerve diseases or as psychotropic pharmaceuticals. The invention furthermore relates to a genetically modified non-human mammal, in which one or more chloride channels from the group consisting of C1C-3, C1C-4, C1C-6 and C1C-7 are not expressed or are expressed non-functionally, and somatic cell lines which are derived from such an animal, and the use thereof for the identification and testing of substances which are suitable for inhibiting chloride channels, in particular C1C-3, C1C-4, C1C-5, C1C-6 and/or C1C-7.

Abstract: This invention relates to novel potassium channels and genes encoding these channels. More specifically the invention provides isolated polynucleotides encoding the KCNQ5 potassium channel subunit, cells transformed with these polynucleotides, transgenic animals comprising genetic mutations, and the use of the transformed cells and the transgenic animals for the in vitro and in vivo screening of chemical compounds affecting KCNQ5 subunit containing potassium channels.

Abstract: The present invention relates to the BSND (barttin) protein and nucleic acids encoding the BSND protein. The present invention provides assays for the detection of BSND and barttin polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to a test system for the identification and testing of active compounds which act on synapic transmission (active compounds for treatment of neuronal diseases), which influence endo/exocytosis, which influence processing of proteins and in particular of active compounds which can be used for treatment of osteoporosis or Paget's disease, for treatment of neurological and neuromuscular diseases and other nerve diseases or as psychotropic pharmaceuticals. The invention furthermore relates to a genetically modified non-human mammal, in which one or more chloride channels from the group consisting of CIC-3. CIC-4, CIC-6 and CIC-7 are not expressed or are expressed non-functionally, and somatic cell lines which are derived from such an animal, and the use thereof for the identification and testing of substances which are suitable for inhibiting chloride channels, in particular CIC-3, CIC-4, CIC-5, CIC-6 and/or CIC-7.

Abstract: This invention relates to novel potassium channels and genes encoding these channels. More specifically the invention provides isolated polynucleotides encoding the KCNQ4 potassium channel, cells transformed with these polynucleotides, transgenic animals comprising genetic mutations, and the use of the transformed cells and the transgenic animals for the in vitro and in vivo screening of drugs affecting KCNQ4 containing potassium channels.

Abstract: This invention relates to novel potassium channels and genes encoding these channels. More specifically the invention provides isolated polynucleotides encoding the KCNQ5 potassium channel subunit, cells transformed with these polynucleotides, transgenic animals comprising genetic mutations, and the use of the transformed cells and the transgenic animals for the in vitro and in vivo screening of chemical compounds affecting KCNQ5 subunit containing potassium channels.

Abstract: The present invention relates to the BSND (barttin) protein and nucleic acids encoding the BSND protein. The present invention provides assays for the detection of BSND and barttin polymorphisms and mutations associated with disease states.

Abstract: This invention relates to novel potassium channels and genes encoding these channels. More specifically the invention provides isolated polynucleotides encoding the KCNQ5 potassium channel subunit, cells transformed with these polynucleotides, transgenic animals comprising genetic mutations, and the use of the transformed cells and the transgenic animals for the in vitro and in vivo screening of chemical compounds affecting KCNQ5 subunit containing potassium channels.