Genetic Mapping and Evaluation of Candidate Genes for Spasmodic, a Neurological Mouse Mutation with Abnormal Startle Response
dc.contributor.author | Buckwalter, Marion S. | en_US |
dc.contributor.author | Testa, Claudia M. | en_US |
dc.contributor.author | Noebels, Jeffrey L. | en_US |
dc.contributor.author | Camper, Sally A. | en_US |
dc.date.accessioned | 2006-04-10T15:39:20Z | |
dc.date.available | 2006-04-10T15:39:20Z | |
dc.date.issued | 1993-08 | en_US |
dc.identifier.citation | Buckwalter, Marion S., Testa, Claudia M., Noebels, Jeffrey L., Camper, Sally A. (1993/08)."Genetic Mapping and Evaluation of Candidate Genes for Spasmodic, a Neurological Mouse Mutation with Abnormal Startle Response." Genomics 17(2): 279-286. <http://hdl.handle.net/2027.42/30658> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WG1-45PMT35-T9/2/66a065223ae0b2ee66012e7e8b92ab0a | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/30658 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8406478&dopt=citation | en_US |
dc.description.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 [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). | en_US |
dc.format.extent | 681879 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Genetic Mapping and Evaluation of Candidate Genes for Spasmodic, a Neurological Mouse Mutation with Abnormal Startle Response | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48709-0618 | en_US |
dc.contributor.affiliationum | Neuroscience Program, University of Michigan, Ann Arbor, Michigan 48709-0618; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48709-0618 | en_US |
dc.contributor.affiliationother | Developmental Neurogenetics Laboratory, Baylor College of Medicine, Houston, Texas 77030-3498 | en_US |
dc.identifier.pmid | 8406478 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/30658/1/0000300.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1006/geno.1993.1322 | en_US |
dc.identifier.source | Genomics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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