OMIA:003064-9796 : Embryonic lethality, MET-related in Equus caballus (domestic horse) |
Categories: Mortality / aging (incl. embryonic lethal)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 164860 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species-specific name: Recessive embryonic lethality and reduced insemination success
Mapping: Steensma et al. (2026) identified 10 haplotypes with homozygous deficiency by analyzing 70K SNP data from over 8000 Friesian horses. The authors identified candidate haplotypes: FH1-FH10 on chromosomes 1, 4 (3 haplotypes), 5, 6, 9, 14, 18 and 23 (OMIA:003063-9796 : Haplotype with homozygous deficiency, FH1-FH10) and identified 4 causal variants for 6 of these haplotypes, including the variant listed below.
Molecular basis: Whole genome sequencing of sires that were carriers for the FH2, FH3 and/or FH4 haplotypes on chromosome 4 identified a 14 bp deletion in the MET gene: NC_009147.3:g.74041982_74041995del, omia.variant:1912 (Steensma et al. 2026).
Clinical features: Steensma et al. (2026) reported that omia.variant:1912 associated with haplotypes FH2/FH3/FH4 results in a ~25% reduction in insemination success in carrier-by-carrier matings, suggestive of recessive embryonic lethality.
Breed:
Friesian (Horse) (VBO_0000969).
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 |
|---|---|---|---|---|---|---|
| MET | MET proto-oncogene, receptor tyrosine kinase | Equus caballus | 4 | NC_091687.1 (77976187..78089352) | MET | 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 | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1912 | Friesian (Horse) | Embryonic lethality, MET-related | MET | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | EquCab3.0 | 4 | NC_009147.3:g.74041982_74041995del | XM_014739000.3:c.1559_1572del | XP_014594486.1:p.(P392Lfs*3) | 2026 | 41808016 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003064-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Steensma, M.J., Ducro, B.J., Doekes, H.P., Dibbits, B., Groenen, M.A.M., Derks, M.F.L. : |
| Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse. BMC Genomics 27:389, 2026. Pubmed reference: 41808016. DOI: 10.1186/s12864-026-12728-5. |
Edit History
- Created by Imke Tammen on 22 Jul 2026
- Changed by Imke Tammen on 22 Jul 2026