| http://purl.uniprot.org/citations/8406478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8406478 | http://www.w3.org/2000/01/rdf-schema#comment | "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 alpha 1-adrenergic receptor (Adra-1) and the alpha 1 and gamma 2 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)."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1993.1322"xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/author | "Noebels J.L."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/author | "Camper S.A."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/author | "Buckwalter M.S."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/author | "Testa C.M."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/pages | "279-286"xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/title | "Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response."xsd:string |
| http://purl.uniprot.org/citations/8406478 | http://purl.uniprot.org/core/volume | "17"xsd:string |
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