title: The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1.
abstract: 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.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States of America.
authors.forename: Megan
authors.initials: M
authors.lastname: Cionni
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States of America.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Menke
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States of America; Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States of America.
authors.forename: Rolf W
authors.initials: RW
authors.lastname: Stottmann
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D024043:Collagen Type II / Q000737:chemistry / Q000235:genetics*; D005038:Ethylnitrosourea / Q000633:toxicity; D005838:Genotype; D006801:Humans; D051379:Mice / Q000235:genetics*; D008969:Molecular Sequence Data; D016296:Mutagenesis; D009153:Mutagens / Q000633:toxicity; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D024043:Collagen Type II; D009153:Mutagens; D005038:Ethylnitrosourea