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.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Alleles*
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Animals
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Base Sequence
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Exons / genetics*
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Gene Duplication*
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Mice
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Mice, Inbred C57BL
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Mice, Neurologic Mutants
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Molecular Sequence Data
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Mutation
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Polymorphism, Single Nucleotide
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Receptors, Glycine / genetics*
Substances
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GLRA1 protein, human
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Glra1 protein, mouse
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Receptors, Glycine