OMIA 001442-9913 : Forelimb-girdle muscular anomaly in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GFRA1||GDNF family receptor alpha 1||Bos taurus||26||NC_037353.1 (36696498..36464988)||GFRA1||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|
|Japanese Black||Forelimb-girdle muscular anomaly||GFRA1||nonsense (stop-gain)||UMD3.1||26||g.36951312C>T||c.430C>T||p.Q144*||2013||Reference not in PubMed; see OMIA 001442-9913 for reference details||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2013||Akiyama, K., Hirano, T., Masoudi, A.A., Uchida, K., Tsuji, T., Kumagai, T., Ohwada, K., Sugimoto, Y., Kunieda, T. :|
|A Mutation of the GFRF1 Gene is Responsible for Forelimb-Girdle Muscular Anomaly (FMA) of Japanese Black Cattle Plant and Animal Genome XXI Abstract P0555:, 2013.|
|2008||Masoudi, AA., Uchida, K., Yokouchi, K., Ohwada, K., Abbasi, AR., Tsuji, T., Watanabe, T., Hirano, T., Sugimoto, Y., Kunieda, T. :|
|Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese black cattle on bovine chromosome 26. Anim Genet 39:46-50, 2008. Pubmed reference: 18254734. DOI: 10.1111/j.1365-2052.2007.01679.x.|
|2007||Masoudi, A.A., Uchida, K., Yokouchi, K., Miyadiera, K., Ogawa, H., Sugimoto, Y., Kunieda, T. :|
|Marker-assisted selection for forelimb-girdle muscular anomaly of Japanese Black cattle Animal Science Journal 78:672-675, 2007.|
- Created by Frank Nicholas on 29 Oct 2007
- Changed by Frank Nicholas on 04 Jan 2013