OMIA:001000-9615 : Thrombasthenia in Canis lupus familiaris (dog)

In other species: domestic cat , horse

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 273800 (trait) , 607759 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Cross-species summary: More specifically called Glanzmann thrombasthenia.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Lipscomb et al. (2000) reported "a 14-base insertion in exon 13 and defective splicing of intron 13 in the alphaIIb gene [ITGA2B]" which "disrupted the fourth alphaIIb calcium-binding domain, caused a shift in the reading frame and resulted in a premature termination codon. Possible consequences of this mutation include decreased alphaIIb mRNA stability and production of truncated alphaIIb protein that lacks the transmembrane and cytoplasmic domains and a large portion of the extracellular domain". Boudreaux et al. (2001) reported a "single nucleotide change at position G1193 (1100) . . . detected in exon 12 of the gene encoding for platelet GPIIb [ITGA2B] in 2 affected Otterhounds. . . . This nucleotide change would result in substitution of histidine for aspartic acid at position 398 (367) within the third calcium-binding domain of GPIIb" Haysome et al. (2016) reported "a single nucleotide change at position 1264 in exon 13 (C1264T), [that] resulted in a nonsense mutation (CGA > TGA) at the codon encoding arginine (R) at position 422 (R422X ...) in two affected mix-breed dogs. Christopherson et al. (2017) reported in a conference proceeding a likely causal variant in a Golden Retriever as a "single nucleotide deletion at position (1924delC) in ITGA2B ... . This change results in a frameshift and premature termination codon 24 bases downstream."

Breeds: Golden Retriever (Dog) (VBO_0200610), Great Pyrenees (Dog) (VBO_0200629), Mixed Breed (Dog) (VBO_0200902), Otterhound (Dog) (VBO_0200980).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) Canis lupus familiaris 9 NC_051813.1 (19744435..19758300) ITGA2B 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.

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 Year Published PubMed ID(s) Acknowledgements
1569 Golden Retriever (Dog) Thrombastenia ITGA2B deletion, small (<=20) Naturally occurring variant 9 Published in a conference proceeding as (1924delC) 2017 Reference not in PubMed; see OMIA 001000-9615 for reference details
80 Otterhound (Dog) Thrombasthenia ITGA2B missense Naturally occurring variant CanFam3.1 9 g.19054488G>C c.1192G>C p.(D398H) NM_001003163.2; NP_001003163.1; published as c.1193G>C / c.1100G>C; substitution of histidine for aspartic acid at position 398 (367). Coordinates in the table have been updated to a recent reference genome and or transcripts. 2001 11703027 Breed was incorrectly listed as Scottish Deerhound. Changed to Otterhound [19/5/2023]
1568 Mixed Breed (Dog) Thrombasthenia ITGA2B nonsense (stop-gain) Naturally occurring variant CanFam3.1 9 g.19057141C>T 1357C>T p.(R453*) NM_001003163.2; NP_001003163.1; published as (C1264T) and (R422X), coordinates in this table have been updated to a recent reference genome 2016 26764135
369 Great Pyrenees (Dog) Thrombasthenia ITGA2B splicing Naturally occurring variant CanFam3.1 9 g.19057144_19057157dup c.1360_1373dup NM_001003163.2; NP_001003163.1; experimentally confirmed splice defect; a 14-base duplication in exon 13 and defective splicing of intron 13 2000 11105947

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001000-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Haginoya, S., Thomovsky, E.J., Johnson, P.A., Brooks, A.C. :
Clinical assessment of primary hemostasis: A review. Top Companion Anim Med 56-57:S1938-9736(23)00058-2:100818, 2023. Pubmed reference: 37673175. DOI: 10.1016/j.tcam.2023.100818.
2021 Arruda, V.R., Weber, J., Samelson-Jones, B.J. :
Gene therapy for inherited bleeding disorders. Semin Thromb Hemost 47:161-173, 2021. Pubmed reference: 33636747. DOI: 10.1055/s-0041-1722862.
2020 Cortese, L., Christopherson, P.W., Pelagalli, A. :
Platelet function and therapeutic applications in dogs: current status and future prospects. Animals (Basel) 10, 2020. Pubmed reference: 31991713. DOI: 10.3390/ani10020201.
2017 Christopherson, P.W., Hill, A., Brooks, M.B., Scofield, M., King, K.B., Boudreaux, M.K. :
Identification of a single base deletion in the glycoprotein IIB gene causing Glanzmann thrombasthenia in a Golden Retriever. American College of Veterinary Pathologists. _Meeting/Abstracts/2017-10-13_Abstracts-revised.pdf, 2017.
2016 Haysom, L.Z., Kennerly, R.M., Müller, R.D., Smith-Carr, S., Christopherson, P.W., Boudreaux, M.K. :
Identification and characterization of Glanzmann thrombasthenia in 2 closely related mixed-breed dogs. J Vet Intern Med 30:642-646, 2016. Pubmed reference: 26764135. DOI: 10.1111/jvim.13825.
2011 Fang, J., Jensen, ES., Boudreaux, MK., Du, LM., Hawkins, TB., Koukouritaki, SB., Cornetta, K., Wilcox, DA. :
Platelet gene therapy improves hemostatic function for integrin {alpha}IIb{beta}3-deficient dogs. Proc Natl Acad Sci U S A 108:9583-9588, 2011. Pubmed reference: 21606353. DOI: 10.1073/pnas.1016394108.
2004 Brdecka, DJ., Adin, CA., Boudreaux, MK., Crawford, EC., Randall, SR. :
Successful ovariectomy in a dog with Glanzmann thrombasthenia. J Am Vet Med Assoc 224:1796-8, 1788, 2004. Pubmed reference: 15198264.
2003 Niemeyer, GP., Boudreaux, MK., Goodman-Martin, SA., Monroe, CM., Wilcox, DA., Lothrop, CD. :
Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation. Exp Hematol 31:1357-62, 2003. Pubmed reference: 14662345.
2001 Boudreaux, M.K., Catalfamo, J.L. :
Molecular and genetic basis for thrombasthenic thrombopathia in Otterhounds. American Journal of Veterinary Research 62:1797-1804, 2001. Pubmed reference: 11703027.
Boudreaux, M.K., Lipscomb, D.L. :
Clinical, biochemical, and molecular aspects of Glanzmann's thrombasthenia in humans and dogs Veterinary Pathology 38:249-260, 2001. Pubmed reference: 11355654.
2000 Lipscomb, D.L., Bourne, C., Boudreaux, M.K. :
Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a splicing defect of intron 13 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947.
1996 Boudreaux, M.K., Kvam, K., Dillon, A.R., Bourne, C., Scott, M., Schwartz, K.A., Toiviokinnucan, M. :
Type I Glanzmanns thrombasthenia in a Great Pyrenees dog Veterinary Pathology 33:503-511, 1996. Pubmed reference: 8885176.
1993 Brooks, M., Catalfamo, J. :
Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434.
1986 Patterson, W.R., Kunicki, T.J., Bell, T.G. :
Two-dimensional electrophoretic studies of platelets from dogs affected with basset hound hereditary thrombopathy: a thrombasthenia-like aggregation defect. Thromb Res 42:195-203, 1986. Pubmed reference: 3715800.
1974 Jones, D.R., Hill, F.W. :
Suspected thrombasthenia in a shetland sheepdog. Vet Rec 94:558-9, 1974. Pubmed reference: 4428600.
1972 Yakeley, W.L., Streeter, R.J. :
Transient thrombasthenia in a dog (a case report). Vet Med Small Anim Clin 67:1193-6, 1972. Pubmed reference: 4484966.
1967 Dodds, WJ. :
Familial canine thrombocytopathy. Thromb Diath Haemorrh Suppl 26:241-8, 1967. Pubmed reference: 6064862.

Edit History

  • Created by Frank Nicholas on 04 Nov 2010
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 28 Aug 2016
  • Changed by Imke Tammen2 on 19 May 2023
  • Changed by Imke Tammen2 on 21 May 2024