Real-time resolution of point mutations that cause phenovariance in mice
Abstract
In forward genetics, a mutagen is used to randomly induce germline mutations that cause variant phenotypes. Forward genetics permits discovery of genes necessary for biological phenomena, but identifying the mutations that cause variant phenotypes is time-consuming and in the past usually occurred long after the phenotype was first recognized. Here we introduce a method and software tool, Linkage Analyzer, for identifying causative mutations present in the germline of mutant mice concurrent with recognition of variant phenotypes. It requires knowledge of genotype at all mutation sites in members of a pedigree prior to phenotypic assessment. Using this method and software, forward genetic studies in mice are limited only by the rates of mutant production and screening.
- Publication:
-
Proceedings of the National Academy of Science
- Pub Date:
- February 2015
- DOI:
- 10.1073/pnas.1423216112
- Bibcode:
- 2015PNAS..112E.440W