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Tiger eye (iris pigmentation, SLC24A5) — Puerto Rican Paso Fino

General genetics · Horse

Iris pigmentation trait known as "tiger eye" (amber-golden iris) described in the Puerto Rican Paso Fino, associated with two variants of the SLC24A5 gene. It is not a disease: in homozygosity or as a compound heterozygote (Tiger-eye 1/Tiger-eye 2) no ocular abnormalities or changes in coat colour have been observed. It is a phenotypic marker of interest to breeders.
Inheritance patternThe phenotype is associated with two SLC24A5 variants (recessive/combined inheritance for the iris phenotype).
Gene / MutationSLC24A5: two causal variants of the tiger-eye pattern. Tiger-eye 1 = substitution EquCab3.0 NC_009144.3:g.143145865A>T; XM_023618043.1:c.272A>T; XP_023473811.1:p.(F91Y); rs5334475205. Tiger-eye 2 = gross deletion (>20) EquCab3.0 NC_009144.3:g.143129074_143129702del. A single locus (SLC24A5) with two alleles. OMIA:002124-9796.
PenetranceNot applicable as a disease; the iris phenotype is associated with the variants (homozygosity or compound heterozygote).
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codeecgw
Turnaround time30 days
Price85,54 €
BreedsPaso fino

Incidence

Documented breed: Puerto Rican Paso Fino (PRPF). Frequencies: limited data.

Clinical signs

- Amber or golden iris ("tiger eye")\n- No associated ocular abnormalities in the available studies\n- No changes in coat colour\n- Does not imply disease

History

Mack et al. (2017) analysed the iris of Puerto Rican Paso Fino horses and associated two SLC24A5 variants (Tiger-eye 1 and Tiger-eye 2) with tiger-eye pigmentation. None of the 122 brown-eyed horses was homozygous for the associated alleles or a compound heterozygote, and no variant appeared in 196 horses from four related breeds without the phenotype (PMID 28655738).

Breeder management

- It is a pigmentation trait, not a disease: it does not require removing breeding animals\n- Use the genotype as phenotypic information for the breeder\n- Do not interpret it as a risk of ocular pathology

Specialist notes

Phenotypic trait (amber-golden iris) of the Puerto Rican Paso Fino; in homozygosity or compound heterozygote (Tiger-eye 1/Tiger-eye 2) no ocular abnormalities have been described. Non-pathological trait of interest to breeders.

References

1. Mack M, Kowalski E, Grahn R, et al. Two variants in SLC24A5 are associated with tiger eye, a novel iris color phenotype in the Paso Fino horse. Anim Genet. 2017. PMID 28655738. 2. OMIA:002124-9796 (Coat colour, albinism, oculocutaneous type VI, horse).

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Price: 85,54 € · Turnaround time: 30 days

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