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Reference: Becker, EB, (2014). The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia. The Cerebellum, 13 (5), 628-636.Citable link to this page:

 

The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.

Abstract: 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.

Peer Review status:Peer ReviewedPublication status:PublishedVersion:Publisher versionNotes:Copyright The Author(s) 2014. This article is published with open access at Springerlink.com. This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.

Bibliographic Details

Journal: The Cerebellumsee more from them

Issue Date: 2014-10

pages:628-636Identifiers

Urn: uuid:4b44cf0d-4756-4316-bd68-646727a81503

Source identifier: 463784

Eissn: 1473-4230

Doi: https://doi.org/10.1007/s12311-014-0564-5

Issn: 1473-4222 Item Description

Type: Journal article;

Language: eng

Version: Publisher versionKeywords: Animals Humans Cerebellum Cerebellar Ataxia Disease Models, Animal Phenotype Point Mutation TRPC Cation Channels Mice, Transgenic Tiny URL: pubs:463784

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Author: Becker, EB - institutionUniversity of Oxford Oxford, MSD, Physiology Anatomy and Genetics fundingRoyal Society - - - - Bibliograp

Source: https://ora.ox.ac.uk/objects/uuid:4b44cf0d-4756-4316-bd68-646727a81503



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