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PATN1 Leopard Pattern

    Test that shows if your horse carries PATN1, which decides how much white and how many spots a leopard horse...

    €43.05 BEZa barne

      AboutAbout

      This test shows whether your horse carries PATN1, the main gene that decides how much white a leopard complex horse has, and how many copies it has.

      It is for breeders of Appaloosas, Knabstruppers and other leopard complex breeds.

      Why test?Why test?

      Breeding for pattern. Together with the LP result, it tells you whether a foal is likely to be a blanket, a leopard or a few-spot.

      Hidden carriers. Mated to a leopard complex horse, a solid horse carrying PATN1 can produce a loud leopard.

      Explaining a pattern. When a leopard complex horse has more or less white than expected, the result helps explain why.

      Clinical signsClinical signs

      What PATN1 looks like depends on the leopard complex gene, LP.

      Horse without LP. PATN1 shows nothing. The horse looks solid.

      Horse with one LP copy.

      • Without PATN1: usually a small white blanket over the hips, or little white
      • With PATN1: usually a leopard, white over most of the body with many coloured spots

      Horse with two LP copies.

      • Without PATN1: mostly coloured, with small white areas
      • With PATN1: usually a few-spot, nearly white with few or no spots

      One or two PATN1 copies look the same.

      Not every horse follows the rule. Other genes also affect how much white a horse has.

      Health. No disease is caused by PATN1. One study suggested it may add to the uveitis risk of LP horses; this still needs confirming. Night blindness depends on LP, not on PATN1.

      TransmissionTransmission

      PATN1 is dominant. It is inherited separately from LP. The gene is not on a sex chromosome, so colts and fillies are the same.

      What each mating can produce:

      • N/N x N/N gives 100% N/N
      • N/N x PATN1/N gives 50% N/N, 50% PATN1/N
      • N/N x PATN1/PATN1 gives 100% PATN1/N
      • PATN1/N x PATN1/N gives 25% N/N, 50% PATN1/N, 25% PATN1/PATN1
      • PATN1/N x PATN1/PATN1 gives 50% PATN1/N, 50% PATN1/PATN1
      • PATN1/PATN1 x PATN1/PATN1 gives 100% PATN1/PATN1
      PreventionPrevention

      For leopard foals. The foal needs LP from one parent and PATN1 from at least one parent.

      For blankets rather than leopards. Use parents that tested negative for PATN1.

      Keep night blindness in mind. Foals with two LP copies are night blind. Check the LP result of both parents so that planning for colour does not produce them by accident.

      Colour should not be the only thing that decides a mating. Health, conformation and temperament are not read here.

      ResultsResults

      N/N: no copy. Cannot pass PATN1 on.

      PATN1/N: one copy. Passes PATN1 to about half of its foals.

      PATN1/PATN1: two copies. Passes PATN1 to every foal.

      SampleSample

      Hair roots: 20 to 40 hairs pulled (not cut) from the mane or tail, with the roots attached. Tape them inside the marked area of the printable sample submission form. Hairs without roots cannot be analysed.

      Blood: 5 mL of whole blood in a K3-EDTA tube, collected by a veterinarian. Label the tube with the horse's name and send it with the submission form.

      One sample is enough for PATN1 and LP together. Keep samples dry and at room temperature, and do not freeze them. Do not send hair that is wet, mouldy or soiled with bedding or faeces.

      Send your sample by regular mail or express delivery to:

      Equigerminal Lab HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portugal

      TurnaroundTurnaround

      Standard processing: results within 5 to 10 working days of the sample arriving at the laboratory. Shipping is arranged and paid for by the client, and transit time is not included in the 5 to 10 working days.

      Samples that fail DNA extraction or amplification are repeated at no extra cost, which may add a few working days. We contact you if a new sample is required.

      How it worksHow it works

      🛒 Purchase the test: select and buy the test online.

      📧 Receive instructions: after payment confirmation you receive sample collection instructions by e-mail.

      ✨ Collect the sample yourself: pull 20 to 40 hair roots with the bulb attached, or ask your veterinarian to collect blood in a K3-EDTA tube.

      📄 Complete the form: print and complete the submission form with the animal identification.

      📮 Send it to the laboratory: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

      📄 Receive your report: your certified report is issued as soon as the analysis is validated.

      FAQsFAQs

      Does the test read the cause of PATN1?
      No. It reads a marker very closely linked to PATN1. The true cause may sit next to it.

      What does this test not detect?
      Other white patterns and the base colour. LP has its own test, and PATN1 means little without it.

      At what age can a horse be tested?
      Any age. The genotype is fixed at conception and never changes.

      For ProfessionalsFor Professionals

      Genetic and clinical detail for veterinarians, geneticists and laboratories.

      • Gene / locus: PATN1 (Pattern-1) locus, ECA3; marker in RFWD3 (ring finger and WD repeat domain 3).
      • Variant: single-nucleotide variant in the 3-prime untranslated region of RFWD3, strongly associated with PATN1; no coding change was found, so the marker may be in linkage with the causal variant rather than causal itself (Holl et al., 2016). No HGVS description is available in our sources.
      • Variant classification: no OMIA entry (not present in the OMIA variant table, dump of 2026-09-19); no ISAG/AVCG classification.
      • Inheritance: autosomal dominant modifier, expressed only in the presence of LP (epistatic to TRPM1 LP).
      • Penetrance / expressivity: marker present in horses with the PATN1 phenotype: Appaloosa 55/57, Knabstrupper 58/59, Miniature Horse 6/6, British Spotted Pony 9/9, Pony of the Americas 1/1; in horses without the phenotype: Appaloosa 0/60, Knabstrupper 1/28, Miniature Horse 5/19 (these five carriers had less than 40% white), British Spotted Pony 1/4, Pony of the Americas 0/1 (Holl et al., 2016). With LP/LP, PATN1 is associated with the few-spot pattern.
      • Breeds with documented carriers or cases: Appaloosa, Knabstrupper, Miniature Horse, British Spotted Pony, Pony of the Americas; absent in 327 horses of nine breeds without LP (Holl et al., 2016).
      • Allele / carrier frequencies: no population-level frequency study identified in our sources.
      • Clinical / diagnostic notes for veterinarians: interpret only with the LP genotype. Because the marker is associative, occasional discordance between genotype and phenotype is expected (see counts above). PATN1 has been suggested as an additional risk contributor to equine recurrent uveitis in Appaloosas (Rockwell et al., 2020).

      Key references:

      • Holl HM, Brooks SA, Archer S, et al. (2016). Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet 47:91-101.
      • Bellone RR, Holl H, Setaluri V, et al. (2013). Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280. doi:10.1371/journal.pone.0078280. PMID 24167615.
      • Rockwell H, et al. (2020). Genetic investigation of equine recurrent uveitis in Appaloosa horses. Anim Genet. doi:10.1111/age.12883.

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