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. 2023 Jan 6;51(D1):D1038-D1045.
doi: 10.1093/nar/gkac972.

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Tudor Groza  1 , Federico Lopez Gomez  1 , Hamed Haseli Mashhadi  1 , Violeta Muñoz-Fuentes  1 , Osman Gunes  1 , Robert Wilson  1 , Pilar Cacheiro  2 , Anthony Frost  3 , Piia Keskivali-Bond  3 , Bora Vardal  3 , Aaron McCoy  3 , Tsz Kwan Cheng  3 , Luis Santos  4 , Sara Wells  3 , Damian Smedley  2 , Ann-Marie Mallon  4 , Helen Parkinson  1
Affiliations

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Tudor Groza et al. Nucleic Acids Res. .

Abstract

The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal makes available curated, integrated and analysed knockout mouse phenotyping data generated by the IMPC project consisting of 85M data points and over 95,000 statistically significant phenotype hits mapped to human diseases. The IMPC portal delivers a substantial reference dataset that supports the enrichment of various domain-specific projects and databases, as well as the wider research and clinical community, where the IMPC genotype-phenotype knowledge contributes to the molecular diagnosis of patients affected by rare disorders. Data from 9,000 mouse lines and 750 000 images provides vital resources enabling the interpretation of the ignorome, and advancing our knowledge on mammalian gene function and the mechanisms underlying phenotypes associated with human diseases. The resource is widely integrated and the lines have been used in over 4,600 publications indicating the value of the data and the materials.

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Figures

Figure 1.
Figure 1.
IMPC data releases evolution over the last 11 years.
Figure 2.
Figure 2.
IMPC Data release 17 (DR17; 19 July 2022) phenotype categories.
Figure 3.
Figure 3.
The IMPC Web portal. The main page provides immediate access to gene and phenotype-based queries, domain-specific data collections, data supporting IMPC publications and help and training materials
Figure 4.
Figure 4.
The IMPC gene and phenotype pages exemplified using the Cib2 gene and specific details on the phenotypes increased circulating cholesterol level and abnormal startle reflex. (A) Gene pages display data and information using a block-oriented approach, with each block focusing on one aspect—for example, significant phenotypes, images, publications. (B) Phenotype pages provide in-depth visual analyses and comprehensive provenance information.
Figure 5.
Figure 5.
The IMPC data flow. Data generated by the phenotyping centres via the systematic phenotyping pipeline is aggregated, validated and undergoes stringent QC procedures before being served as input to the Extract-Transform-Load and statistical analysis pipeline. The outcome—a curated genotype–phenotype resource - is made available via data releases and the IMPC Web Portal.
Figure 6.
Figure 6.
The IMPC phenotyping pipeline.
See this image and copyright information in PMC

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