Originally published as Genetics Published Articles Ahead of Print on October 8, 2006.

Genetics, Vol. 174, 2245-2247, December 2006, Copyright © 2006
doi:10.1534/genetics.106.065532

De Novo Exon Duplication in a New Allele of Mouse Glra1 (Spasmodic)

Katherine D. Holland^*, Michelle T. Fleming, Susannah Cheek, Jennifer L. Moran, David R. Beier and Miriam H. Meisler^,1

^* Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039, Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618 and Genetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston Massachusetts 02115

¹ Corresponding author: Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618.
E-mail: meislerm{at}umich.edu

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.

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