Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

The Moonwalker (Mwk) mouse is a recent model of dominantly inherited cerebellar ataxia. The motor phenotype of the Mwk mouse is due to a gain-of-function mutation in the gene encoding the cation-permeable transient receptor potential channel (TRPC3). This mutation converts a threonine into an alanine in the highly conserved cytoplasmic S4-S5 linker of the channel, affecting channel gating. TRPC3 is highly expressed in cerebellar Purkinje cells and type II unipolar brush cells that both degenerate in the Mwk mouse. Studies of the Mwk mouse have provided new insights into the role of TRPC3 in cerebellar development and disease, which could not have been predicted from the Trpc3 knockout phenotype. Here, the genetic, behavioral, histological, and functional characterization of the Mwk mouse is reviewed. Moreover, the relationship of the Mwk mutant to other cerebellar mouse models and its relevance as a model for cerebellar ataxia are discussed.

Original publication

DOI

10.1007/s12311-014-0564-5

Type

Journal article

Journal

Cerebellum

Publication Date

10/2014

Volume

13

Pages

628 - 636

Keywords

Animals, Cerebellar Ataxia, Cerebellum, Disease Models, Animal, Humans, Mice, Transgenic, Phenotype, Point Mutation, TRPC Cation Channels