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Phenotype-driven mutagenesis experiments are a powerful approach to identifying novel alleles in a variety of contexts. The traditional disadvantage of this approach has been the subsequent task of identifying the affected locus in the mutants of interest. Recent advances in bioinformatics and sequencing have reduced the burden of cloning these ENU mutants. Here we report our experience with an ENU mutagenesis experiment and the rapid identification of a mutation in a previously known gene. A combination of mapping the mutation with a high-density SNP panel and a candidate gene approach has identified a mutation in  collagen type II, alpha I (Col2a1) .  Col2a1  has previously been studied in the mouse and our mutant phenotype closely resembles mutations made in the  Col2a1  locus.

The Mouse MC13 Mutant Is a Novel ENU Mutation in Collagen Type II, Alpha 1