Evidence map›Paper›PMID 30100824›Full record

ArticleConservation genetics (Print)2018

The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.

Violeta Muñoz-Fuentes, Pilar Cacheiro, Terrence F Meehan, Juan Antonio Aguilar-Pimentel, Steve D M Brown, Ann M Flenniken, Paul Flicek, Antonella Galli, Hamed Haseli Mashhadi, Martin Hrabě de Angelis and 15 more

Abstract read
In one paragraph

Article in Conservation genetics (Print), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 3 pooled it
–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

75 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
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  6. EchoVisuALL: From Echocardiography to Gene Discovery.bioRxiv : the preprint server for biology · 2026
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  13. Commentary: The International Mouse Phenotyping Consortium: high-throughput in vivo functional annotation of the mammalian genome.Mammalian genome : official journal of the International Mammalian Genome Society · 2024
    Article
  14. Article
  15. Article
  16. GMMID: genetically modified mice information database.Database : the journal of biological databases and curation · 2024
    Article
  17. Article
  18. Article
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15 more citing papers are in PubMed but not listed here.

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

25 authors.

Violeta Muñoz-Fuentes1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.ORCID 0000-0003-3574-546X
Pilar Cacheiro2Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ UK.ORCID 0000-0002-6335-8208
Terrence F Meehan1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.ORCID 0000-0003-1980-3228
Juan Antonio Aguilar-Pimentel3German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany.ORCID 0000-0002-4694-7107
Steve D M Brown4Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD UK.
Ann M FlennikenThe Centre for Phenogenomics, Toronto, ON M5T 3H7 Canada.
Paul Flicek1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.
Antonella Galli7Wellcome Trust Sanger Institute, Cambridge, CB10 1SA UK.
Hamed Haseli Mashhadi1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.
Martin Hrabě de Angelis3German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany.
Jong Kyoung Kim10Department of New Biology, DGIST, Daegu, 42988 Republic of Korea.
K C Kent Lloyd11Mouse Biology Program, University of California, Davis, CA 95618 USA.
Colin McKerlieThe Centre for Phenogenomics, Toronto, ON M5T 3H7 Canada.
Hugh Morgan4Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD UK.
Stephen A Murray13The Jackson Laboratory, Bar Harbor, ME 04609 USA.
Lauryl M J NutterThe Centre for Phenogenomics, Toronto, ON M5T 3H7 Canada.
Patrick T ReillyPHENOMIN-iCS, 1 Rue Laurent Fries, 67404 Illkirch Cedex, Alsace France.
John R Seavitt15Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA.
Je Kyung Seong16Laboratory of Developmental Biology and Genomics, College of Veterinary Medicine, Interdisciplinary Program for Bioinformatics and Program for Cancer Biology, Seoul National University, Seoul, Republic of Korea.
Michelle Simon4Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD UK.
Hannah Wardle-Jones7Wellcome Trust Sanger Institute, Cambridge, CB10 1SA UK.
Ann-Marie Mallon4Medical Research Council Harwell Institute (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD UK.
Damian Smedley2Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ UK.
Helen E Parkinson1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.
IMPC consortium

Funding

The Jackson Laboratory Knockout Mouse Production and Phenotyping Project (JAX KOMP2)UM1OD023222 · OD · JACKSON LABORATORY · PI ROBERT E BRAUN, Stephen A Murray · 2016 to 2026
$47.2M
KOMP2-Phase3 Production and Phenotyping by the DTCC Consortium TCP Transfer to UC DavisUM1OD023221 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2016 to 2026
$45.7M
KOMP Phase II Mouse Production and CryopreservationU42OD011175 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2012 to 2015
$18.9M
High Throughput Production and Cryopreservation of Knockout MiceU42OD011185 · OD · JACKSON LABORATORY · PI MURRAY, STEPHEN A, TAFT, ROBERT A · 2012 to 2015
$17.9M
Consortium for Broad Based Disease Phenotyping of Knockout MiceU54HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., PAYLOR, RICHARD E · 2011 to 2015
$17.0M
KOMP Phase II Mouse PhenotypingU54HG006364 · NHGRI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2011 to 2015
$16.3M
The Jackson Laboratory KOMP2 Phenotyping CenterU54HG006332 · NHGRI · JACKSON LABORATORY · PI BRAUN, ROBERT E, SVENSON, KAREN L · 2011 to 2015
$12.8M
Mouse Phenotyping Informatics Infrastruture - MP12U54HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BROWN, STEVE, FLICEK, PAUL · 2011 to 2015
$11.4M
Medical Research Council MC_U142684172NHGRI NIH HHS U54 HG006332NHGRI NIH HHS U54 HG006348NHGRI NIH HHS U54 HG006364NHGRI NIH HHS U54 HG006370NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS UM1 OD023221NIH HHS UM1 OD023222
6 · The paper itself

Abstract

The International Mouse Phenotyping Consortium (IMPC) is building a catalogue of mammalian gene function by producing and phenotyping a knockout mouse line for every protein-coding gene. To date, the IMPC has generated and characterised 5186 mutant lines. One-third of the lines have been found to be non-viable and over 300 new mouse models of human disease have been identified thus far. While current bioinformatics efforts are focused on translating results to better understand human disease processes, IMPC data also aids understanding genetic function and processes in other species. Here we show, using gorilla genomic data, how genes essential to development in mice can be used to help assess the potentially deleterious impact of gene variants in other species. This type of analyses could be used to select optimal breeders in endangered species to maintain or increase fitness and avoid variants associated to impaired-health phenotypes or loss-of-function mutations in genes of critical importance. We also show, using selected examples from various mammal species, how IMPC data can aid in the identification of candidate genes for studying a condition of interest, deliver information about the mechanisms involved, or support predictions for the function of genes that may play a role in adaptation. With genotyping costs decreasing and the continued improvements of bioinformatics tools, the analyses we demonstrate can be routinely applied.

Indexed as

CheetahEndangered speciesEssential genesIMPCKnockoutLoss-of-functionMouseNon-model speciesPandaPhenotypePolar bearWolf

Identifiers

PMID30100824
PMCPMC6061128

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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.