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Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

Lookup NU author(s): Professor Deborah HendersonORCiD

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Abstract

We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA [2, 3]. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation.

Publication metadata

Author(s): Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SDM, Gray IC, Murdoch JN

Publication type: Article

Publication status: Published

Journal: Current Biology

Year: 2003

Volume: 13

Issue: 13

Pages: 1129-1133

ISSN (print): 0960-9822

ISSN (electronic): 1879-0445

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/S0960-9822(03)00374-9

DOI: 10.1016/S0960-9822(03)00374-9

PubMed id: 12842012

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