OMIA:002272-9796 : Thrombasthenia, atypical, SEL1L-related in Equus caballus (domestic horse) |
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602329 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Cross-species summary: Renamed from Thrombasthenia, atypical [17/07/2025]
Species-specific name: Atypical Equine Thrombasthenia
Species-specific symbol: AET
Molecular basis: Dahlgren et al. (2025): "A missense variant in SEL1L (c.1810A>G38 p.Ile604Val) was found in AET [Atypical Equine Thrombasthenia]-affected horses, which [the authors] show is associated with decreased protein expression. SEL1L is intracellular in equine platelets and localizes to the surface upon activation with thrombin. Platelets from homozygous horses exhibit significant decreases in spreading on immobilized collagen."
Clinical features: Dahlgren et al. (2025): "AET results in reduced platelet response to the physiological agonist thrombin, leading to abnormal bleeding after vascular injury [Fry et al., 2005; Norris et al. 2006]. Furthermore, this inhibition can result in prolonged bleeding and, in one reported case, epistaxis during racing [Fry et al., 2005]."
Breed:
Thoroughbred (Horse) (VBO_0001083).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SEL1L | SEL1L adaptor subunit of ERAD E3 ubiquitin ligase | Equus caballus | 24 | NC_091707.1 (39093301..39042698) | SEL1L | Ensembl, NCBI gene |
Variants
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1819 | Thoroughbred (Horse) | Thrombasthenia, atypical | SEL1L | substitution | missense | Naturally occurring variant | Not currently evaluated | EquCab3.0 | 24 | NC_009167.3:g.26081856T>C | NM_001317264.1:c.1810A>G | NP_001304193.1:p.Ile604Val | 2025 | 40654876 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002272-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2025 | Dahlgren, A.R., Careddu, F., Norris, J.W., Adili, R., Kropp, E.M., Li, Q., Holinstat, M., Biunno, I., Balduini, A., Tablin, F., Shavit, J.A., Finno, C.J. : |
| Identification of the role of SEL1L in platelet function through a multi-species genetic investigation. bioRxiv , 2025. Pubmed reference: 40654876. DOI: 10.1101/2025.04.30.651507. | |
| 2021 | Dahlgren, A.R., Tablin, F., Finno, C.J. : |
| Genetics of equine bleeding disorders. Equine Vet J 53:30-37, 2021. Pubmed reference: 32463964. DOI: 10.1111/evj.13290. | |
| 2015 | Norris, J.W., Pombo, M., Shirley, E., Blevins, G., Tablin, F. : |
| Association of factor V secretion with protein kinase B signaling in platelets from horses with atypical equine thrombasthenia. J Vet Intern Med 29:1387-94, 2015. Pubmed reference: 26290457. DOI: 10.1111/jvim.13595. | |
| 2007 | Norris, J.W., Pratt, S.M., Hunter, J.F., Gardner, I.A., Tablin, F. : |
| Prevalence of reduced fibrinogen binding to platelets in a population of Thoroughbreds. Am J Vet Res 68:716-21, 2007. Pubmed reference: 17605606. DOI: 10.2460/ajvr.68.7.716. | |
| 2006 | Norris, J.W., Pratt, S.M., Auh, J.H., Wilson, S.J., Clutter, D., Magdesian, K.G., Ferraro, G.L., Tablin, F. : |
| Investigation of a novel, heritable bleeding diathesis of Thoroughbred horses and development of a screening assay. J Vet Intern Med 20:1450-6, 2006. Pubmed reference: 17186864. DOI: 10.1892/0891-6640(2006)20[1450:ioanhb]2.0.co;2. | |
| 2005 | Fry, M.M., Walker, N.J., Blevins, G.M., Magdesian, K.G., Tablin, F. : |
| Platelet function defect in a thoroughbred filly. J Vet Intern Med 19:359-62, 2005. Pubmed reference: 15954553. DOI: 10.1892/0891-6640(2005)19[359:pfdiat]2.0.co;2. |
Edit History
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Imke Tammen2 on 16 Jun 2024
- Changed by Imke Tammen2 on 17 Jul 2025