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

Genetics

Division of Neurology, Cincinnati Children's Hospital Medical Center, OH 45229-3039, and Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

Published: December 2006

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698620PMC
http://dx.doi.org/10.1534/genetics.106.065532DOI Listing

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