Appaloosa Spotting (Leopard Complex or LP)
Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516064/
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses http://bfg.oxfordjournals.org/content/9/3/193.abstract
Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2535566/
Coat Color and Domestication
Coat Color Variation at the Beginning of Horse Domestication http://www.sciencemag.org/content/324/5926/485.full
A mutation in the MATP gene causes the cream coat colour in the horse. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732686/pdf/1297-9686-35-1-1...
The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21. http://www.ncbi.nlm.nih.gov/pubmed/11736803
Identification of horse chestnut coat color genotype using SNaPshot® (contains some information on the alternative chestnut allele ea) http://www.biomedcentral.com/content/pdf/1756-0500-2-255.pdf
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse http://www.nature.com/ng/journal/v40/n8/abs/ng.185.html
Kit Gene Mutations (White Patterns)
Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065884/
Equine KIT Gene Mutations (Not published to a scientific journal but a very good reference none-the-less.) This article is offline. I hope to get permission to republish it soon.
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. http://www.ncbi.nlm.nih.gov/pubmed/16284805
Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000909
Lethal White (Frame)
Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses. http://www.ncbi.nlm.nih.gov/pubmed/11197568
Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653
A missense mutation in PMEL17 is associated with the Silver coat color in the horse http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1617113/ Multiple congenital ocular anomalies in Icelandic horses http://www.biomedcentral.com/1746-6148/7/21
Relationship between Extension and Expression of White Spotting
Common White Facial Markings in Bay and Chestnut Arabian Horses and Their Hybrids http://jhered.oxfordjournals.org/content/82/2/167.long Many people on the http://colorgenetics.info/forum were involved in the creation of this list. I would like to thank everyone who helped compile it.