De Novo Exon Duplication in a New Allele of Mouse Glra1 (Spasmodic)
- 1 December 2006
- journal article
- Published by Oxford University Press (OUP) in Genetics
- Vol. 174 (4), 2245-2247
- https://doi.org/10.1534/genetics.106.065532
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.Keywords
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