First Author | Holland KD | Year | 2006 |
Journal | Genetics | Volume | 174 |
Issue | 4 | Pages | 2245-7 |
PubMed ID | 17028313 | Mgi Jnum | J:137595 |
Mgi Id | MGI:3801268 | Doi | 10.1534/genetics.106.065532 |
Citation | Holland KD, et al. (2006) De novo exon duplication in a new allele of mouse Glra1 (spasmodic). Genetics 174(4):2245-7 |
abstractText | 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. |