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

John A. Curtin, Elizabeth Quint, Vicky Tsipouri, Ruth M. Arkell, Bruce Cattanach, Andrew J. Copp, Deborah J. Henderson, Nigel Spurr, Philip Stanier, Elizabeth M. Fisher, Patrick M. Nolan, Karen P. Steel, Steve D M Brown, Ian C. Gray, Jennifer N. Murdoch, Elizabeth Orton

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Pages (from-to)1129-1133
    Number of pages4
    JournalCurrent Biology
    Issue number13
    Publication statusPublished - 1 Jul 2003


    • Animals
    • genetics: Cell Polarity
    • Chromosome Mapping
    • Comparative Study
    • physiopathology: Hair Cells, Inner
    • In Situ Hybridization
    • Mice
    • Microscopy, Electron, Scanning
    • genetics: Mutation, Missense
    • physiopathology: Neural Tube Defects
    • genetics: Receptors, G-Protein-Coupled
    • Research Support, Non-U.S. Gov't
    • Sequence Analysis, DNA
    • physiology: Signal Transduction


    Dive into the research topics of 'Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse'. Together they form a unique fingerprint.

    Cite this