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Equine color: Snowdrop

Color & coat · Horse

Test for the snowdrop dilution of the SLC45A2 gene, described in Gypsy Cob horses with a cremello appearance that did not carry the classic cream, pearl or spotting variants. Complementary to, not a substitute for, clinical examination.
Inheritance patternAutosomal recessive (SLC45A2, C^sno allele). It manifests in homozygosity or combined with another dilution allele of the gene.
Gene / MutationSLC45A2: C^sno allele, c.449G>A substitution (p.R150Q; published as c.305G>A, p.Arg102Gln; EquCab3.0 g.31688649G>A). It is a variant of the same gene as cream, pearl and sunshine.
PenetranceHigh in homozygous or combined genotypes; no visible effect in carriers of a single copy.
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codeqqmq
Turnaround time15 days
Price52,60 €
BreedsTinker, Gypsy cob

Incidence

Applicable breed: Traditional Gypsy Cob (United Kingdom). Frequencies: limited data; described in one family.

Clinical signs

• Marked dilution phenotype, similar to cremello (light cream coat).\n• Without needing to carry cream, pearl or spotting alleles.\n• Light skin and absence of the patches of other patterns.

History

In 2020 Bisbee and colleagues described, in a Gypsy Cob mare phenotypically cremello and negative for the known dilutions and patterns, a variant in SLC45A2 that they named snowdrop (C^sno).

Breeder management

• Interpret together with cream, pearl and sunshine, as they share the gene.\n• Avoid combining SLC45A2 dilution alleles unless there is a defined objective.\n• Do not assume classic cremello without genotyping the SLC45A2 variants.\n• A negative result does not rule out other causes of dilution.

Specialist notes

It provides a molecular explanation for 'false double dilutes'. It is advisable to genotype the four described alleles of SLC45A2 (cream, pearl, sunshine and snowdrop) before concluding.

References

1. Bisbee 2020, Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses (PMID 31961951); OMIA:001344-9796.
Price: 52,60 € · Turnaround time: 15 days

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