OMIA 002135-9913 : Arthrogryposis multiplex congenita, AGRN-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|AGRN||agrin||Bos taurus||16||NC_037343.1 (51461933..51422630)||AGRN||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|
|Angus||Arthrogryposis multiplex congenita, AGRN-related||AGRN||deletion, gross (>20)||A 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011)||2011||Reference not in PubMed; see OMIA 002135-9913 for reference details|
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.
|2020||Konovalova, EN., Romanenkova, OS., Volkova, VV., Kostyunina, OV. :|
|DNA analysis of the Russian populations of Aberdeen Angus, Hereford and Belgian Blue cattle Arch Anim Breed 63:409-416, 2020. DOI: 10.5194/aab-63-409-2020.|
|2012||Windsor, P., Kessell, A., Finnie, J. :|
|Corrigendum to: Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle Australian Veterinary Journal 90:28 only, 2012.|
|2011||Beever, J.E., Marron, B.M. :|
|Screening for arthrogryposis multiplex in bovines. US Patent 20110151440 A1 :, 2011.|
|Windsor, P., Kessell, A., Finnie, J. :|
|Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle. Aust Vet J 89:394-401, 2011. Pubmed reference: 21933167. DOI: 10.1111/j.1751-0813.2011.00826.x.|
- Created by Frank Nicholas on 15 Dec 2017
- Changed by Frank Nicholas on 15 Dec 2017
- Changed by Frank Nicholas on 21 Aug 2019