OMIA 000662-9940 : Motor neuron disease, lower in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|AGTPBP1||ATP/GTP binding protein 1||Ovis aries||2||NC_056055.1 (33978899..34170838)||AGTPBP1||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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Romney Marsh||Motor neuron disease, lower||AGTPBP1||missense||Oar_rambouillet_v1.0||2||g.35795594G>C||c.2909G>C||p.(R970P)||protein and cDNA positions are based on XP_014948529.2 and XM_015093043.2, respectively||2012||22588130||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.
|2012||Zhao, X., Onteru, S.K., Dittmer, K., Parton, K., Blair, H., Rothschild, M.F., Garrick, D.J. :|
|A heritable AGTPBP1 missense mutation is responsible for a lower motor neuron disease in Romney sheep. Plant & Animal Genome (PAG) XX :Abstract P0587, 2012.|
|Zhao, X., Onteru, S.K., Dittmer, K.E., Parton, K., Blair, H.T., Rothschild, M.F., Garrick, D.J. :|
|A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity (Edinb) 109:156-62, 2012. Pubmed reference: 22588130. DOI: 10.1038/hdy.2012.23.|
- Created by Frank Nicholas on 19 Jan 2012
- Changed by Frank Nicholas on 21 Mar 2012