Below are descriptions of coat colors that occur in horses. As more information becomes available, this page will be updated.
Base Colors
Extension (Black versus Chestnut)
Extension determines whether a horse will be black-based or chestnut-based. Black horses are uniformly dark all over their bodies, with the shade ranging from a sun-faded brown to jet black. Chestnut horses are uniformly red, with the shade ranging from a light orange to even a dark near-black. Chestnut horses may have a much lighter mane and tail (flaxen chestnut).
Black (E) is inherited dominantly to chestnut (e). There are two currently known chestnut alleles. The first, e, is the result of a C to T missense mutation at codon 83 in the MC1R gene, resulting in a serine being replaced with a phenylalanine (Marklund et al. 1996). The second, ea, is the result of a G to A missense mutation at codon 84 in the MC1R gene, resulting in an aspartic acid being replaced with an asparagine (Wagner and Reissmann 2000).
Modifiers
Agouti (Bay versus Black)
Agouti determines whether a black horse will be bay or black. There is no known affect of agouti on chestnut-based horses. Bay horses are a reddish-brown on most of their body with black legs, ear tips, mane, and tail (points). The non-black area can range from a light brown to near-black. Black horses are uniformly dark all over their bodies, with the shade ranging from a sun-faded brown to jet black.
Bay (A) is inherited dominantly to black (a). The black allele is an 11 base pair deletion in the second exon of the ASIP gene, believing to extend the transcribed region by 402 base pairs (Rieder et al. 2001).
Grey (Pregressive greying)
Grey determines whether a horse will gradually lose color in their coat as they age. Non-white areas in the coat will become progessively lighter, sometimes to the point of appearing completely white. The rate of lightening and the areas affected is variable - some horses retain darker points or have patches of hair that never grey.
Grey (G) is inherited dominantly to non-grey (g). The grey allele is a 4.6 kbp duplication in intron 6 of the STX17 gene. Although the mechanism is not fully understood, the mutation results in an upregulation of both STX17 and NR4A3 that is believed to cause hyperproliferation of melanocytes leading to premature depletion of melanocyte stem cells (and thus inability to produce pigment) (Rosengren Pielberg et al. 2008).
Dilutions
Cream (Bay: Buckskin or Perlino, Black: Smoky Black or Smoky Cream, Chestnut: Palomino or Cremello)
Cream dilutes the color of red pigment when one copy is inherited and all pigment when present in two copies. When one copy is present, the body color on a bay or chestnut becomes a light tan or gold. The ear tips, legs, mane, and tail on a buckskin remain black whereas the mane and tail of a palomino become white. Although eyes may also exhibit some lightening, the skin on these horses remains black. One copy is usually not apparent on a black horse due to the minimal number of red hairs in the coat. When a horse of any base color inherits two copies, the entire body including mane and tail becomes a light cream color. Eye and skin color are both affected, with eyes becoming a light blue and skin appearing pink.
Cream (CCR) is inherited in an incompletely dominant fashion to non-cream (C). The cream allele is a G to A missense mutation in codon 153 of the MATP/SLC45A2 gene, resulting in an aspartic acid residue being substituted for an asparagine (Mariat et al. 2003)
Patterns
Dominant White (Dominant White versus Solid)
Dominant white is a white spotting pattern characterized by 50%-100% of the coat being white at birth. It has a similar appearance to sabino spotting (see below). Unlike most of the other colors described, dominant white has many different underlying genetic causes present in different family lines. Dominant white is frequently suspected when a predominantly white foal is born to two solid parents, especially when the horses have tested negative for known white spotting patterns.
Dominant white (W) is inherited dominantly to non-white (+). Studies in other species suggest that the W allele may be embryonic lethal. Currently, all known dominant white horses are heterozygous (W/+) for their allele. There are 17 different alleles reported in the literature (W1-W17), all disrupting function of the KIT gene. A table with information on all known W can be found in Haase et al. 2011. Previous studies of the various dominant white mutations can be found in Haase et al. 2007, Haase et al. 2009, and Holl et al. 2010.
Frame Overo (Frame Overo versus Solid)
The frame overo spotting pattern is characterized by white spotting that is “framed” with color, usually arranged horizontally. The white areas in a horse with only frame patterning rarely crosses the topline. Frame overos may have one or two blue eyes. Expression of the pattern can range from minimal body white, sometimes with blue eyes, to white spotting on more than half of the body. Horses with two copies of the frame overo mutation have a condition known as lethal white foal syndrome, characterized by almost no pigment in the coat and an inability to pass feces. These foals are unable to survive and should be humanely euthanised. Genetic testing for the frame overo gene is important to avoid producing lethal foals by never crossing two frame overo carriers.
Frame overo (O) is inherited in an incompletely dominant fashion to non-white. The frame overo allele is a TC to AG substitution in codon 118 of exon 1 of the EDNRB gene, resulting in an isoleucine being replaced with a lysine (Metallinos et al. 1998, Santschi et al. 1998, Yang et al. 1998).
Please note that all homozygous frame overo (O/O) offspring will not survive.
Sabino-1 (Sabino Overo versus Solid)
Sabino is a white spotting pattern in horses usually characterized by white patches on the face, lower legs, or belly and interspersed white hairs on the midsection. Outward differences in appearance between horses with two copies of the gene (homozygotes) and those with only one (heterozygotes) can be quite striking with some homozygous individuals appearing completely white.
Sabino-1 (SB1) is inherited in an incompletely dominant to non-sabino (N). The sabino-1 allele is a T to A substitution located 13 base pairs upstream from KIT exon 17, resulting in mRNA transcripts lacking exon 17. Homozygous (SB1/SB1) horses retain some transcripts with exon 17, though still significantly less than heterozygotes (Brooks et al. 2005).
Published articles
Brooks S and Bailey E. (2005). Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mammalian Genome, 16: 893-902.
Brooks S, Lear T, Adelson D, and Bailey E. (2007). A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenetic and Genome Research, 199: 225-230.
Brunberg E, Andersson L, Cothran G, Sandberg K, Mikko S, and Lindgren G. (2006). A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genetics, 7: 46.
Cook D, Brooks S, Bellone R, and Bailey E. (2008). Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS Genetics, 4: e1000195.
Haase B, Brooks S, Schlumbaum A, Azor P, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet P, Rieder S, and Leeb T. (2007). Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genetics, 3: e195.
Haase B, Brooks S, Tozaki T, Burger D, Poncet P, Rieder S, Hasegawa T, Penedo C, and Leeb T. (2009). Seven novel KIT mutations in horses with white coat color phenotypes. Animal Genetics, 40: 623-629.
Haase B, Rieder S, Tozaki T, Hasegawa T, Penedo MC, Jude R, and Leeb T. (2011). Five novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics, 42: 337-339.
Holl H, Brooks S, and Bailey E. (2010). De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern. Animal Genetics, 41: 196-198.
Mariat D, Taourit S, and Guérin G. (2003). A mutation in the MATP gene causes the cream coat colour in the horse. Genetics, Selection, and Evolution, 35: 119-133.
Marklund L, Johansson Moller M, Sandberg K, and Andersson L. (1996). A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mammalian Genome, 7: 895-899.
Metallinos D, Bowling A, and Rine J. (1998). A missense mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome: an equine version of Hirschsprung Disease. Mammalian Genome, 9: 426–431.
Rieder S, Taourit S, Mariat D, Langlois B, and Guérin G. (2001). Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mammalian Genome, 12: 450-455.
Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, Seltenhammer MH, Druml T, Binns M, Fitzsimmons C, Lindgren G, Sandberg K, Baumung R, Vetterlein M, Strömberg S, Grabherr M, Wade C, Lindblad-Toh K, Pontén F, Heldin CH, Sölkner J, and Andersson L. (2008) A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nature Genetics, 40: 1004–1009.
Santschi E, Purdy A, Valberg S, Vrotsos P, Kaese H and Mickelson J. (1998). Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mammalian Genome, 9, 306–309.
Wagner H-J and Reissmann M. (2000). New polymorphism detected in the horse MC1R gene. Animal Genetics, 31: 289-290.
Yang G, Croaker D, Zhang A, Manglick P, Cartmill T, and Cass D. (1998). A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Human Molecular Genetics, 7: 1047-1052.
Punnet Squares
The following tables represent the predicted offspring of various crosses of parents. Although crosses are only shown for one of the possible traits, the same information applies for each trait given by “Example traits.” The headings of each table give the outward appearance of the parents whereas the the labels within the tables identify the genotype. Below the table are the percentages of each type of offspring you would expect to see if you crossed the same parents many times. Due to the number of offspring horses produce, you will likely not see these exact ratios. Essentially, you are flipping a coin with each mating - if you only flip a coin 10 times, it is likely you will not see 5 heads and 5 tails, though you would see nearly half and half if you flipped the same coin a thousand times.
Dominant
Example traits: Grey (G) versus Non-Grey (g), Tobiano (TO) versus Solid (to)
tobiano x tobiano
parents |
TO |
TO |
TO |
TO/TO |
TO/TO |
TO |
TO/TO |
TO/TO |
100% tobiano
tobiano x tobiano
parents |
TO |
TO |
TO |
TO/TO |
TO/TO |
N |
TO/N |
TO/N |
100% tobiano
tobiano x unpatterned
parents |
TO |
TO |
N |
TO/N |
TO/N |
N |
TO/N |
TO/N |
100% tobiano
tobiano x tobiano
parents |
TO |
N |
TO |
TO/TO |
TO/N |
N |
TO/N |
N/N |
75% tobiano 25% unpatterned
tobiano x unpatterned
parents |
TO |
N |
N |
TO/N |
N/N |
N |
TO/N |
N/N |
50% tobiano 50% unpatterned
Incompletey Dominant
Example traits: Cream (CCR) versus Non-Cream (C), Frame Overo (O) versus Solid (N), Sabino-1 (SB1) versus Solid (N)
sabino white x sabino white
parents |
SB1 |
SB1 |
SB1 |
SB1/SB1 |
SB1/SB1 |
SB1 |
SB1/SB1 |
SB1/SB1 |
100% sabino white
sabino white x sabino-1
parents |
SB1 |
SB1 |
SB1 |
SB1/SB1 |
SB1/SB1 |
N |
SB1/N |
SB1/N |
50% sabino white 50% sabino-1
sabino white x unpatterned
parents |
SB1 |
SB1 |
N |
SB1/N |
SB1/N |
N |
SB1/N |
SB1/N |
100% sabino-1
sabino white x sabino-1
parents |
SB1 |
N |
SB1 |
SB1/SB1 |
SB1/N |
N |
SB1/N |
N/N |
25% sabino white 50% sabino-1 25% unpatterned
sabino-1 x unpatterned
parents |
SB1 |
N |
N |
SB1/N |
N/N |
N |
SB1/N |
N/N |
50% sabino-1 50% unpatterned
Recessive
Example traits: Black (E) versus Chestnut (e), Bay (A) versus Black (a)
black x black
parents |
E |
E |
E |
E/E |
E/E |
E |
E/E |
E/E |
100% black
black x black
parents |
E |
E |
E |
E/E |
E/E |
e |
E/e |
E/e |
100% black
black x chestnut
parents |
E |
E |
e |
E/e |
E/e |
e |
E/e |
E/e |
100% black
black x black
parents |
E |
e |
E |
E/E |
E/e |
e |
E/e |
e/e |
75% black 25% chestnut
black x chestnut
parents |
E |
e |
e |
E/e |
e/e |
e |
E/e |
e/e |
50% black 50% chestnut
chestnut x chestnut
parents |
e |
e |
e |
e/e |
e/e |
e |
e/e |
e/e |
100% chestnut
Embryonic Lethal
Example traits: Dominant White (W) versus Solid (+)
dominant white x dominant white
parents |
W |
+ |
W |
W/W |
W/+ |
+ |
W/+ |
+/+ |
67% dominant white 33% solid (W/W embryos are believed to be lost early in pregnancy)
dominant white x solid
parents |
W |
+ |
+ |
W/+ |
+/+ |
+ |
W/+ |
+/+ |
50% dominant white 50% solid