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

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. Steel and Fiona M. Watt ()
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Kifayathullah Liakath-Ali: Centre for Stem Cells and Regenerative Medicine, King’s College London, Guy’s Hospital
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
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
Fiona M. Watt: Centre for Stem Cells and Regenerative Medicine, King’s College London, Guy’s Hospital

Nature Communications, 2014, vol. 5, issue 1, 1-13

Abstract: 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.

Date: 2014
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DOI: 10.1038/ncomms4540

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