OMIA 000078-9615 : Ataxia, cerebellar, neonatal, GRM1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GRM1||glutamate receptor, metabotropic 1||Canis lupus familiaris||1||NC_006583.3 (37205817..37600048)||GRM1||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Coton de Tulear||Ataxia, cerebellar||GRM1||insertion, gross (>20)||"a 62-bp truncated retrotransposon insert in exon 8"||2011||21281350|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2011||Zeng, R., Farias, FH., Johnson, GS., McKay, SD., Schnabel, RD., Decker, JE., Taylor, JF., Mann, CS., Katz, ML., Johnson, GC., Coates, JR., O'Brien, DP. :|
|A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia. J Vet Intern Med 25:267-72, 2011. Pubmed reference: 21281350. DOI: 10.1111/j.1939-1676.2010.0666.x.|
|2002||Coates, J.R., O'Brien, D.P., Kline, K.L., Storts, R.W., Johnson, G.C., Shelton, G.D., Patterson, E.E., Abbott, L.C. :|
|Neonatal cerebellar ataxia in Coton de Tulear dogs Journal of Veterinary Internal Medicine 16:680-9, 2002. Pubmed reference: 12465765.|
- Created by Frank Nicholas on 12 May 2011
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