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

Authors
  • Katherine D. Holland
  • Michelle T. Fleming
  • Susannah Cheek
  • Jennifer L. Moran
  • David R. Beier
  • Miriam H. Meisler
Publisher
Copyright © 2006 by the Genetics Society of America
Publication Date
Dec 01, 2006
Source
PMC
Keywords
Disciplines
  • Biology
  • Medicine
License
Unknown

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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