ArticleGenome research2005
Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations.
Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 59 citations in OpenAlex.
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- Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.Disease models & mechanisms · 2012Article
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- Genetic causes of spermatogenic failure.Asian journal of andrology · 2012Review
- A-MYB (MYBL1) transcription factor is a master regulator of male meiosis.Development (Cambridge, England) · 2011Article
- A Mutation inGenes · 2011Article
- Creating a "hopeful monster": mouse forward genetic screens.Methods in molecular biology (Clifton, N.J.) · 2011Article
- Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease.American journal of physiology. Gastrointestinal and liver physiology · 2011Review
- High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5.BMC genetics · 2010Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
A region-specific ENU mutagenesis screen was conducted to elucidate the functional content of proximal mouse Chr 5. We used the visibly marked, recessive, lethal inversion Rump White (Rw) as a balancer in a three-generation breeding scheme to identify recessive mutations within the approximately 50 megabases spanned by Rw. A total of 1003 pedigrees were produced, representing the largest inversion screen performed in mice. Test-class animals, homozygous for the ENU-mutagenized proximal Chr 5 and visibly distinguishable from nonhomozygous littermates, were screened for fertility, hearing, vestibular function, DNA repair, behavior, and dysmorphology. Lethals were identifiable by failure to derive test-class animals within a pedigree. Embryonic lethal mutations (total of 34) were overwhelmingly the largest class of mutants recovered. We characterized them with respect to the time of embryonic death, revealing that most act at midgestation (8.5-10.5) or sooner. To position the mutations within the Rw region and to guide allelism tests, we performed complementation analyses with a set of new and existing chromosomal deletions, as well as standard recombinational mapping on a subset of the mutations. By pooling the data from this and other region-specific mutagenesis projects, we calculate that the mouse genome contains approximately 3479-4825 embryonic lethal genes, or about 13.7%-19% of all genes.
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Registered trials
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.