OMIA 001485-9913 : Dwarfism, Angus in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PRKG2||protein kinase, cGMP-dependent, type II||Bos taurus||6||NC_037333.1 (96004142..95879148)||PRKG2||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|
|Angus||Dwarfism, Angus||PRKG2||nonsense (stop-gain)||UMD3.1||6||g.97667351C>T||c.1573C>T||p.R525*||rs109639251||2009||19887637||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Angus||Dwarfism, Angus||PRKG2||nonsense (stop-gain)||UMD3.1||6||g.97667351C>T||c.2032C>T||p.R678*||2009||19887637||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
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||Koltes, JE., Mishra, BP., Kumar, D., Kataria, RS., Totir, LR., Fernando, RL., Cobbold, R., Steffen, D., Coppieters, W., Georges, M., Reecy, JM. :|
|A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle. Proc Natl Acad Sci U S A 106:19250-5, 2009. Pubmed reference: 19887637. DOI: 10.1073/pnas.0904513106.|
|2006||Latter, MR., Latter, BD., Wilkins, JF., Windsor, PA. :|
|Inheritance of proportionate dwarfism in Angus cattle. Aust Vet J 84:122-8, 2006. Pubmed reference: 16629191.|
|2003||Mishra, BP., Reecy, JM. :|
|Mutations in the limbin gene previously associated with dwarfism in Japanese brown cattle are not responsible for dwarfism in the American Angus breed. Anim Genet 34:311-2, 2003. Pubmed reference: 12873227.|
|1993||Harper, P.A.W., Latter, M.R. :|
|Proportionate dwarfism in Angus cattle Australian Veterinary Journal 70:450, 1993. Pubmed reference: 8117211.|
|1982||Swartz, HA., Vogt, DW., Kintner, LD. :|
|Chromosome evaluation of Angus calves with unilateral congenital cleft lip and jaw (cheilognathoschisis). Am J Vet Res 43:729-31, 1982. Pubmed reference: 7073098.|
|1965||Bovard, K.P., Proide, B.M. :|
|Snorter dwarfism in an Angus inbred line Journal of Heredity 56:243-246, 1965. Pubmed reference: 5893032.|
- Created by Frank Nicholas on 08 Apr 2010
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011