Appaloosa Pattern – 1 increases the amount of white in observed in horses that also carry Leopard Complex
Breeds known to carry this mutation
PATN1 has been identified in many breeds but only has a noticeable effect in horses that also have the Leopard Complex mutation. It is most appropriate to test Appaloosas, Knabstruppers and some pony breeds.
The Leopard Complex gene determines whether a horse will show leopard complex spotting, while other genes determine the amount of white shown. The PATN1 mutation is associated with increasing white in Lp horses. If the horse is Lp/n and PATN1/n, it will likely have a 'leopard' pattern. If the horse is Lp/Lp and PATN1/n, it likely has a 'few-spot' pattern. Note that unless the horse also carries Lp, the effect of PATN1 will not be observed.
Interpretation of results
n/n: Horse does not carry the PATN1 mutation that boosts the amount of white in horses carrying the leopard complex mutation.
PATN1/n: Horse carries one copy of the PATN1 mutation. If the horse also carries the leopard complex mutation, it will generally have a large amount of white on its coat.
PATN1/PATN1: Horse carries two copies of the PATN1 mutation. If the horse also carries the leopard complex mutation, it will generally have a large amount of white on its coat and will transmit the PATN1 variant to all of its offspring.
Holl et al. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Animal Genetics 2015; 47:91-101. doi: 10.1111/age.12375