ArticlePloS one2013
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Identification of novel genes includingFrontiers in endocrinology · 2023Article
- Gene datasets associated with mouse cleft palate.Data in brief · 2018Article
- Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.G3 (Bethesda, Md.) · 2018Article
- Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.Cytoskeleton (Hoboken, N.J.) · 2018Article
- The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.Developmental biology · 2016Review
- Golgb1 regulates protein glycosylation and is crucial for mammalian palate development.Development (Cambridge, England) · 2016Article
- Cilia/Ift protein and motor -related bone diseases and mouse models.Frontiers in bioscience (Landmark edition) · 2015Review
- A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.Molecular syndromology · 2014Article
- Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2014Article
- Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.PLoS genetics · 2013Article
- Article
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15 authors.
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Abstract
backgroundMice harbouring gene mutations that cause phenotypic abnormalities during organogenesis are invaluable tools for linking gene function to normal development and human disorders. To generate mouse models harbouring novel alleles that are involved in organogenesis we conducted a phenotype-driven, genome-wide mutagenesis screen in mice using the mutagen N-ethyl-N-nitrosourea (ENU). METHODOLOGY/PRINCIPAL
findingsENU was injected into male C57BL/6 mice and the mutations transmitted through the germ-line. ENU-induced mutations were bred to homozygosity and G3 embryos screened at embryonic day (E) 13.5 and E18.5 for abnormalities in limb and craniofacial structures, skin, blood, vasculature, lungs, gut, kidneys, ureters and gonads. From 52 pedigrees screened 15 were detected with anomalies in one or more of the structures/organs screened. Using single nucleotide polymorphism (SNP)-based linkage analysis in conjunction with candidate gene or next-generation sequencing (NGS) we identified novel recessive alleles for Fras1, Ift140 and Lig1. CONCLUSIONS/SIGNIFICANCE: In this study we have generated mouse models in which the anomalies closely mimic those seen in human disorders. The association between novel mutant alleles and phenotypes will lead to a better understanding of gene function in normal development and establish how their dysfunction causes human anomalies and disease.
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