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

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Copyright © 2006 by the Genetics Society of America
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PMC
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  • Biology
  • Medicine
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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.

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