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- W2045271229 abstract "Spasmodic (spd) is a recessive mouse mutation characterized by a prolonged righting reflex, fine motor tremor, leg clasping, and stiffness. Using an intersubspecific backcross that segregates spd, we placed spd on Chr 11 with the following gene order: Adra-1-3.8 ± 2.1 cM-Pad-1-6.3 ± 2.7-(spd, Anx-6, Csfgm, Glr-1, Il-3, Il-4, Il-5, Sparc)-9.1 ± 2.4-D11 Mit5-2.2 ± 1.5-Asgr-1. This localization eliminated the α1-adrenergic receptor (Adra-1) and the α1 and γ2 subunits of the GABAA receptor as candidate genes. Two other promising candidate genes, annexin VI (Anx-6) and a glutamate receptor (Glr-1), were mapped to within 2.1 cM of the spd locus. Although no recombination was observed between spd and Anx-6 or Glr-1, no evidence was obtained for a lesion in either gene. The presence of normal Anx-6 and Glr-1 mRNA transcripts was confirmed by Northern blot analysis, in situ hybridization, and DNA sequence analysis. The localization of Anx-6 and Glr-1 extends the known synteny homology between human chromosome 5q21-q31 and mouse Chr 11 and reveals the probable chromosomal location of the human counterpart to spd. Synteny homology and phenotypic similarities suggest that spasmodic mice may be a genetic model for the inherited human startle disease, hyperekplexia (STHE)." @default.
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- W2045271229 date "1993-08-01" @default.
- W2045271229 modified "2023-09-23" @default.
- W2045271229 title "Genetic Mapping and Evaluation of Candidate Genes for Spasmodic, a Neurological Mouse Mutation with Abnormal Startle Response" @default.
- W2045271229 doi "https://doi.org/10.1006/geno.1993.1322" @default.
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