De novo exon duplication in a new allele of mouse Glra1 (spasmodic)

Abstract

The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage mechanism. Copyright © 2006 by the Genetics Society of America.