Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1993-10-28
|
| pubmed:abstractText |
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).
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0888-7543
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
17
|
| pubmed:geneSymbol |
Anx-6,
Asgr-1,
Glr-1,
Il-3,
Il-4,
Sparc
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
279-86
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:8406478-Alternative Splicing,
pubmed-meshheading:8406478-Animals,
pubmed-meshheading:8406478-Annexin A6,
pubmed-meshheading:8406478-Base Sequence,
pubmed-meshheading:8406478-Blotting, Northern,
pubmed-meshheading:8406478-Brain,
pubmed-meshheading:8406478-Chromosome Mapping,
pubmed-meshheading:8406478-Cloning, Molecular,
pubmed-meshheading:8406478-Crosses, Genetic,
pubmed-meshheading:8406478-Electroencephalography,
pubmed-meshheading:8406478-Evoked Potentials, Auditory,
pubmed-meshheading:8406478-Female,
pubmed-meshheading:8406478-Gene Expression,
pubmed-meshheading:8406478-Genes, Recessive,
pubmed-meshheading:8406478-Humans,
pubmed-meshheading:8406478-In Situ Hybridization,
pubmed-meshheading:8406478-Male,
pubmed-meshheading:8406478-Mice,
pubmed-meshheading:8406478-Mice, Inbred Strains,
pubmed-meshheading:8406478-Mice, Neurologic Mutants,
pubmed-meshheading:8406478-Molecular Sequence Data,
pubmed-meshheading:8406478-Motor Activity,
pubmed-meshheading:8406478-Muscles,
pubmed-meshheading:8406478-Oligodeoxyribonucleotides,
pubmed-meshheading:8406478-Polymerase Chain Reaction,
pubmed-meshheading:8406478-RNA, Messenger,
pubmed-meshheading:8406478-Sequence Homology, Nucleic Acid,
pubmed-meshheading:8406478-Startle Reaction,
pubmed-meshheading:8406478-Transcription, Genetic
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response.
|
| pubmed:affiliation |
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|