Evidence map›Paper›PMID 24721909›Full record

ArticleNature communications2014

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 and 2 more

Abstract read
In one paragraph

Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed.

  1. bioRxiv : the preprint server for biology · 2026
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  7. Review
  8. Mapping OScientific reports · 2020
    Article
  9. MYSM1 Suppresses Cellular Senescence and the Aging Process to Prolong Lifespan.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2020
    Article
  10. Article
  11. Article
  12. Review
  13. Review
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  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Kifayathullah Liakath-Ali1] Centre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London SE1 9RT, UK [2] Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QW, UK [3] Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Valerie E VancollieWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Emma HeathCentre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London SE1 9RT, UK.
Damian P SmedleyWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Jeanne EstabelWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
David SunterWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Tia Ditommaso1] Department of Anatomy and Developmental Biology, Monash University, Wellington Road, Clayton, Victoria 3800, Australia [2] Present address: Brigham Regenerative Medicine Center, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Jacqueline K WhiteWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Ramiro Ramirez-SolisWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Ian SmythDepartment of Anatomy and Developmental Biology, Monash University, Wellington Road, Clayton, Victoria 3800, Australia.
Karen P Steel1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Wolfson Centre for Age-Related Diseases, King's College London, Guy's Campus, London SE1 1UL, UK.
Fiona M WattCentre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London SE1 9RT, UK.

Funding

Medical Research Council G0300212Medical Research Council MC_QA137918Wellcome Trust 096540Wellcome Trust 098051Wellcome Trust 100669
6 · The paper itself

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.

Indexed as

PhenotypeSkinAnimalsDatabases, GeneticFemaleHumansMaleMiceMice, KnockoutMutationReverse Genetics

Identifiers

PMID24721909
PMCPMC3996542

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.