De novo exon duplication in a new allele of mouse Glra1 (spasmodic).
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.
Holland
Katherine D
KD
Division of Neurology, Cincinnati Children's Hospital Medical Center, OH 45229-3039, and Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.
Fleming
Michelle T
MT
Cheek
Susannah
S
Moran
Jennifer L
JL
Beier
David R
DR
Meisler
Miriam H
MH
D000483:Alleles; D000818:Animals; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D020440:Gene Duplication; D051379:Mice; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants; D008969:Molecular Sequence Data; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D018009:Receptors, Glycine / Q000235:genetics*
C000657604:GLRA1 protein, human; C000657605:Glra1 protein, mouse; D018009:Receptors, Glycine