ArticleScientific reports2022
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Pooled it
- Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.Genome biology · 2026Article
- Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery.Disease models & mechanisms · 2025Article
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- 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 · 2024Article
- Computational identification of disease models through cross-species phenotype comparison.Disease models & mechanisms · 2024Article
- Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets.Frontiers in molecular biosciences · 2023Review
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Authors and funding
36 authors at 20 institutions in 15 countries.
Funding
Abstract
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or reproductive trait abnormalities. The STRING protein interaction tool was used to identify interactions between known cilia gene products and those encoded by the genes in individual knockout mouse strains in order to generate a list of "candidate ciliopathy genes." From this list, 32 genes encoded proteins predicted to interact with known ciliopathy proteins. Of these, 25 had no previously described roles in ciliary pathobiology. Histological and morphological evidence of phenotypes found in ciliopathies in knockout mouse lines are presented as examples (genes Abi2, Wdr62, Ap4e1, Dync1li1, and Prkab1). Phenotyping data and descriptions generated on IMPC mouse line are useful for mechanistic studies, target discovery, rare disease diagnosis, and preclinical therapeutic development trials. Here we demonstrate the effective use of the IMPC phenotype data to uncover genes with no previous role in ciliary biology, which may be clinically relevant for identification of novel disease genes implicated in ciliopathies.
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Registered trials
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