OMIA 000220-9615 : Severe combined immunodeficiency disease, autosomal in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PRKDC||protein kinase, DNA-activated, catalytic polypeptide||Canis lupus familiaris||29||NC_051833.1 (241975..20665)||PRKDC||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.
|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|
|Jack Russell Terrier||Severe combined immunodeficiency disease, autosomal||PRKDC||nonsense (stop-gain)||c.10879G>T||p.E3627*||2002||11867233|
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.
|2009||Meek, K., Jutkowitz, A., Allen, L., Glover, J., Convery, E., Massa, A., Mullaney, T., Stanley, B., Rosenstein, D., Bailey, SM., Johnson, C., Georges, G. :|
|SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. J Immunol 183:2529-36, 2009. Pubmed reference: 19635917. DOI: 10.4049/jimmunol.0801406.|
|2002||Bell, T.G., Butler, K.L., Sill, H.B., Stickle, J.E., Ramos-Vara, J.A., Dark, M.J. :|
|Autosomal recessive severe combined immunodeficiency of Jack Russell Terriers Journal of Veterinary Diagnostic Investigation 14:194-204, 2002. Pubmed reference: 12033674.|
|Ding, Q., Bramble, L., Yuzbasiyan-Gurkan, V., Bell, T., Meek, K. :|
|DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Pubmed reference: 11867233.|
|2001||Meek, K., Kienker, L., Dallas, C., Wang, W., Dark, MJ., Venta, PJ., Huie, ML., Hirschhorn, R., Bell, T. :|
|SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. J Immunol 167:2142-50, 2001. Pubmed reference: 11489998.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 20 Sep 2012