Open AccessDe Novo Exon Duplication in a New Allele of Mouse Glra1 (Spasmodic)
Author(s) -
Katherine D. Holland,
Michelle T. Fleming,
Susannah Cheek,
Jennifer L. Moran,
David R. Beier,
Miriam H. Meisler
Publication year - 2006
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1534/genetics.106.065532
Subject(s) - gene duplication , biology , genetics , exon , breakpoint , gene , mutant , allele , mutation , chromosomal translocation
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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