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Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen

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  • Kifayathullah Liakath-Ali

    (Centre for Stem Cells and Regenerative Medicine, King’s College London, Guy’s Hospital
    University of Cambridge
    Wellcome Trust—Medical Research Council Stem Cell Institute, University of Cambridge)

  • Valerie E. Vancollie

    (Wellcome Trust Sanger Institute, Genome Campus)

  • Emma Heath

    (Centre for Stem Cells and Regenerative Medicine, King’s College London, Guy’s Hospital)

  • Damian P. Smedley

    (Wellcome Trust Sanger Institute, Genome Campus)

  • Jeanne Estabel

    (Wellcome Trust Sanger Institute, Genome Campus)

  • David Sunter

    (Wellcome Trust Sanger Institute, Genome Campus)

  • Tia DiTommaso

    (Monash University
    Present address: Brigham Regenerative Medicine Center, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA)

  • Jacqueline K. White

    (Wellcome Trust Sanger Institute, Genome Campus)

  • Ramiro Ramirez-Solis

    (Wellcome Trust Sanger Institute, Genome Campus)

  • Ian Smyth

    (Monash University)

  • Karen P. Steel

    (Wellcome Trust Sanger Institute, Genome Campus
    Wolfson Centre for Age-Related Diseases, King’s College London, Guy's Campus)

  • Fiona M. Watt

    (Centre for Stem Cells and Regenerative Medicine, King’s College London, Guy’s Hospital)

Abstract

Permanent stop-and-shop large-scale mouse mutant resources provide an excellent platform to decipher tissue phenogenomics. Here we analyse skin from 538 knockout mouse mutants generated by the Sanger Institute Mouse Genetics Project. We optimize immunolabelling of tail epidermal wholemounts to allow systematic annotation of hair follicle, sebaceous gland and interfollicular epidermal abnormalities using ontology terms from the Mammalian Phenotype Ontology. Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. Some mutant genes are expressed in the skin, whereas others are not, indicating systemic effects. One phenotype is affected by diet and several are incompletely penetrant. In-depth analysis of three mutants, Krt76, Myo5a (a model of human Griscelli syndrome) and Mysm1, provides validation of the screen. Our study is the first large-scale genome-wide tissue phenotype screen from the International Knockout Mouse Consortium and provides an open access resource for the scientific community.

Suggested Citation

  • Kifayathullah Liakath-Ali & Valerie E. Vancollie & Emma Heath & Damian P. Smedley & Jeanne Estabel & David Sunter & Tia DiTommaso & Jacqueline K. White & Ramiro Ramirez-Solis & Ian Smyth & Karen P. St, 2014. "Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen," Nature Communications, Nature, vol. 5(1), pages 1-13, May.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms4540
    DOI: 10.1038/ncomms4540
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