OMIA 001564-9615 : Bleeding disorder, P2RY12-related in Canis lupus familiaris
Category: Haematopoietic system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: ADP response impaired; Postoperative hemorrhage
Molecular basis: Boudreaux and Martin and (2011) reported the causal mutation as being "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12, an ADP receptor protein located on platelet membranes".
Breed: Greater Swiss Mountain.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|P2RY12||purinergic receptor P2Y, G-protein coupled, 12||Canis lupus familiaris||23||NC_051827.1 (46581332..46535240)||P2RY12||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.
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|
|454||Greater Swiss Mountain||Bleeding disorder, P2RY12-related||P2RY12||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||23||g.45909987_45909989del||c.516_518del||p.(S173del)||NM_001003365.1; NP_001003365.1; c.516_518delCTC; "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12"||2011||21554368|
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.
|2017||Flores, R.S., Boudreaux, M.K., Vasquez, B., Bristow, P., Aronson, L.R., Santoro-Beer, K., Callan, M.B. :|
|Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 46:569-574, 2017. Pubmed reference: 28800150. DOI: 10.1111/vcp.12533.|
|2011||Boudreaux, MK., Martin, M. :|
|P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol 40:202-206, 2011. Pubmed reference: 21554368. DOI: 10.1111/j.1939-165X.2011.00318.x.|
- Created by Frank Nicholas on 12 May 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 23 Apr 2013
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 05 Mar 2017