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OMIA:003063-9796 : Haplotype with homozygous deficiency, FH1-FH10 in Equus caballus (domestic horse)

Categories: Mortality / aging (incl. embryonic lethal)

Single-gene trait/disorder: unknown

Disease-related: yes

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 and identified causal variants for 6 of these haplotypes: two new likely causal variants for recessive embryonic lethality and two variants that had previously been identified to cause hydrocephalus and dwarfism in Frisian horses. Follow links for additional information on all four likely causal variants:
Haplotype FH1 - omia.variant:348 - see OMIA:000487-9796 : Hydrocephalus in Equus caballus 
Haplotype FH8 - omia.variant:421 - see OMIA:002068-9796 : Dwarfism, B4GALT7-related in Equus caballus 
Halplotyes FH2-4 - omia.variant:1912 - see OMIA:003064-9796 : Embryonic lethality, MET-related in Equus caballus
Haplotype FH10 - omia.variant:1913 - see OMIA:003065-9796 : Sperm abnormalities and embryonic lethality, FH10 Haplotype in Equus caballus 

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003063-9796: 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