OMIA 001485-9913 : Dwarfism, Angus in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601591

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Associated gene:

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

Variants

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) UMD 3.1 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.97667351 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

References


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.
1965 Bovard, K.P., Proide, B.M. :
Snorter dwarfism in an Angus inbred line Journal of Heredity 56:243-246, 1965. Pubmed reference: 5893032.

Edit History


  • Created by Frank Nicholas on 08 Apr 2010
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011