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

the IMPC consortium

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1-11
Number of pages11
JournalConservation Genetics
DOIs
StateAccepted/In press - May 19 2018

Fingerprint

genome
Genome
phenotype
gene
mice
genes
bioinformatics
Computational Biology
human diseases
Genes
Genetic Phenomena
Gorilla gorilla
Endangered Species
Gorilla
Essential Genes
Genetic Association Studies
Knockout Mice
endangered species
genotyping
Mammals

Keywords

  • Cheetah
  • Endangered species
  • Essential genes
  • IMPC
  • Knockout
  • Loss-of-function
  • Mouse
  • Non-model species
  • Panda
  • Phenotype
  • Polar bear
  • Wolf

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics

Cite this

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

In: Conservation Genetics, 19.05.2018, p. 1-11.

Research output: Contribution to journalArticle

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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.",
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