title: Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.
abstract: TRPML3, a member of the transient receptor potential (TRP) family, is an inwardly rectifying, non-selective Ca2+-permeable cation channel that is regulated by extracytosolic Na+ and H+ and can be activated by a variety of small molecules. The severe auditory and vestibular phenotype of the TRPML3(A419P) varitint-waddler mutation made this protein particularly interesting for inner ear biology. To elucidate the physiological role of murine TRPML3, we conditionally inactivated Trpml3 in mice. Surprisingly, lack of functional TRPML3 did not lead to circling behavior, balance impairment or hearing loss.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, United States of America.
authors.forename: Simone
authors.initials: S
authors.lastname: Jörs
authors.forename: Christian
authors.initials: C
authors.lastname: Grimm
authors.forename: Lars
authors.initials: L
authors.lastname: Becker
authors.forename: Stefan
authors.initials: S
authors.lastname: Heller
mesh_terms: D000818:Animals; D001933:Brain Stem / Q000502:physiology; D002412:Cations; D002460:Cell Line; D003600:Cytosol / Q000378:metabolism; D005091:Exons; D017353:Gene Deletion; D005838:Genotype; D006309:Hearing / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D006859:Hydrogen / Q000737:chemistry; D051379:Mice; D018345:Mice, Knockout; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D020033:Protein Isoforms; D012964:Sodium / Q000737:chemistry; D050053:TRPM Cation Channels / Q000235:genetics*; D050051:Transient Receptor Potential Channels; D015837:Vestibular Diseases / Q000235:genetics*
chemical_list: D002412:Cations; C470193:Mcoln3 protein, mouse; D020033:Protein Isoforms; D050053:TRPM Cation Channels; D050051:Transient Receptor Potential Channels; D006859:Hydrogen; D012964:Sodium