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Equine coat colour: Appaloosa pattern 1

Color & coat · Horse

Test for the PATN1 modifier, which regulates the extent of white in the leopard complex. It analyses the RFWD3 variant associated with patterns showing a higher proportion of white (leopard/snow). It is complementary to, not a substitute for, clinical examination.
Inheritance patternAutosomal, modifier of the leopard complex (TRPM1). The effect on the extent of white depends on the combination with LP.
Gene / MutationRFWD3 (RING finger and WD repeat domain 3), ECA3p: SNP ECA3:23.658.447T>G in the 3'-UTR region (Holl et al. 2016), the marker most associated with the PATN1 modifier. No specific coding polymorphisms were identified; the marker modulates the extent of white in the presence of the LP allele (TRPM1). It is a modifier, not an independent causal gene.
PenetranceIncomplete and modulated by LP: it only manifests in horses carrying the leopard complex. The extent of white varies with other modifiers.
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codeutvx
Turnaround time15 days
Price52,60 €

Incidence

Applicable breed: Appaloosa, Knabstrupper and other breeds with the leopard complex. Frequencies: limited data.

Clinical signs

• Higher proportion of white over the base pattern (blanket, flakes or leopard).\n• Can combine with LP to produce whiter phenotypes.\n• No effect on pigmentation when there is no leopard complex.

History

The leopard complex (LP) is caused by an insertion in TRPM1; in 2016 Holl and colleagues identified a variant in RFWD3 associated with the PATN1 modifier, which increases the extent of white.

Breeder management

• Always interpret together with the LP genotype (TRPM1).\n• A positive PATN1 together with LP/LP increases white and the risk of night blindness.\n• Do not use PATN1 alone to predict the pattern.\n• A negative result does not rule out other modifiers.

Specialist notes

PATN1 is a modifier of the leopard complex (LP); its effect depends on the presence of the LP allele. Useful for selecting for greater/lesser extent of white. Do not confuse it with the main LP locus (TRPM1), which is analysed in 'Leopard complex'.

References

1. Holl HM, Brooks SA, Bailey E. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet. 2016;47(2):175-85. PMID 26568529. 2. OMIA:002139-9796 (Leopard complex, horse).
Price: 52,60 € · Turnaround time: 15 days

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