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|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|784||Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation||DCLRE1C||splicing||Naturally occurring variant||Sscrofa11.1||10||g.46845535G>A||2015||26320255|
|785||Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation||DCLRE1C||nonsense (stop-gain)||Naturally occurring variant||Sscrofa11.1||10||g.46851262G>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. Pubmed reference: 23514746. 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