OMIA 001986-9823 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DCLRE1C||DNA cross-link repair 1C||Sus scrofa||10||NC_010452.4 (46820016..46863848)||DCLRE1C||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|
|Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation||DCLRE1C||splicing||Sscrofa 10.2||10||g.51578763G>A||2015||26320255|
|Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation||DCLRE1C||nonsense (stop-gain)||Sscrofa 10.2||10||g.51584489G>A||p.Trp267*||2015||26320255|
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.
|2015||Waide, E.H., Dekkers, J.C., Ross, J.W., Rowland, R.R., Wyatt, C.R., Ewen, C.L., Evans, A.B., Thekkoot, D.M., Boddicker, N.J., Serão, N.V., Ellinwood, N.M., Tuggle, C.K. :|
|Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs. J Immunol 195:3171-9, 2015. Pubmed reference: 26320255. DOI: 10.4049/jimmunol.1501132.|
|2014||Ewen, C.L., Cino-Ozuna, A.G., He, H., Kerrigan, M.A., Dekkers, J.C., Tuggle, C.K., Rowland, R.R., Wyatt, C.R. :|
|Analysis of blood leukocytes in a naturally occurring immunodeficiency of pigs shows the defect is localized to B and T cells. Vet Immunol Immunopathol 162:174-9, 2014. Pubmed reference: 25454085. DOI: 10.1016/j.vetimm.2014.10.003.|
|2013||Ozuna, A.G., Rowland, R.R., Nietfeld, J.C., Kerrigan, M.A., Dekkers, J.C., Wyatt, C.R. :|
|Preliminary findings of a previously unrecognized porcine primary immunodeficiency disorder. Vet Pathol 50:144-6, 2013. Pubmed reference: 22903400. DOI: 10.1177/0300985812457790.|
|2012||Basel, M.T., Balivada, S., Beck, A.P., Kerrigan, M.A., Pyle, M.M., Dekkers, J.C.M., Wyatt, C.R., Rowland, R.R.R., Anderson, D.E., Bossmann, S.H., Troyer, D.L. :|
|Human Xenografts Are Not Rejected in a Naturally Occurring Immunodeficient Porcine Line: A Human Tumor Model in Pigs. Biores Open Access 1:63-68, 2012. DOI: 10.1089/biores.2012.9902.|
|2008||Cai, W., Casey, D.S., Dekkers, J.C. :|
|Selection response and genetic parameters for residual feed intake in Yorkshire swine. J Anim Sci 86:287-98, 2008. Pubmed reference: 17998435. DOI: 10.2527/jas.2007-0396.|
- Created by Frank Nicholas on 31 Mar 2016
- Changed by Frank Nicholas on 31 Mar 2016
- Changed by Frank Nicholas on 01 Apr 2016