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OMIA:001564-9615 : Bleeding disorder, P2RY12-related in Canis lupus familiaris

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609821 (trait) , 600515 (gene)

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.

Associated gene:

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

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.

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
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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.

2023 Van Vertloo, L.R., Portanova, A.Z., Donnini, E.K., Hale, A.S., LeVine, D.N. :
Prophylactic use of a lyophilized platelet product for rhinoscopic diagnosis and treatment of sinonasal aspergillosis in a dog with a P2Y12 platelet receptor mutation. J Vet Emerg Crit Care (San Antonio) :, 2023. Pubmed reference: 36815741 . DOI: 10.1111/vec.13284.
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.

Edit History


  • 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
  • Changed by Imke Tammen2 on 11 Mar 2023