The E Locus determines if and where a dog can produce dark (black or brown) hair. Dogs with two copies of the recessive e allele do not produce dark hairs at all, and will be “red” over their entire body. The shade of red, which can range from a deep copper to yellow/gold to cream, is dependent on other genetic factors including the Intensity (I) Locus, which has yet to be genetically mapped. In addition to determining if a dog can develop dark hairs at all, the E Locus can give a dog a black “mask” or “widow’s peak,” unless the dog has overriding coat color genetic factors. Dogs with one or two copies of the Em allele usually have a melanistic mask (dark facial hair as commonly seen in the German Shepherd and Pug). Dogs with no copies of Em but one or two copies of the Eg allele usually have a melanistic "widow's peak" (dark forehead hair as commonly seen in the Afghan Hound and Borzoi, where it is called either “grizzle” or “domino”).

Citations: Schmutz et al 2003 , Dreger and Schmutz 2010 , Ollivier et al 2017

More information: http://www.doggenetics.co.uk/masks.html

The K Locus K^B allele “overrides” the A Locus, meaning that it prevents the A Locus genotype from affecting coat color. For this reason, the K^B allele is referred to as the “dominant black” allele. As a result, dogs with at least one K^B allele will usually have solid black or brown coats (or red/cream coats if they are ee at the E Locus) regardless of their genotype at the A Locus, although several other genes could impact the dog’s coat and cause other patterns, such as white spotting. Dogs with the k^yk^y genotype will show a coat color pattern based on the genotype they have at the A Locus. Dogs who test as K^Bk^y may be brindle rather than black or brown.

Citations: Candille et al 2007

More information: http://www.doggenetics.co.uk/black.htm

The A Locus controls switching between black and red pigment in hair cells, but it will only be expressed in dogs that are not ee at the E Locus and are k^yk^y at the K Locus. Sable (also called “Fawn”) dogs have a mostly or entirely red coat with some interspersed black hairs. Agouti (also called “Wolf Sable”) dogs have red hairs with black tips, mostly on their head and back. Black and tan dogs are mostly black or brown with lighter patches on their cheeks, eyebrows, chest, and legs. Recessive black dogs have solid-colored black or brown coats.

Citations: Berryere et al 2005 , Dreger and Schmutz 2011

More information: http://www.doggenetics.co.uk/tan.html

Dogs with two copies of the d allele will have all black pigment lightened (“diluted”) to gray, or brown pigment lightened to lighter brown in their hair, skin, and sometimes eyes. There are many breed-specific names for these dilute colors, such as “blue”, “charcoal”, “fawn”, “silver”, and “Isabella”. Note that dilute dogs have a higher incidence of Color Dilution Alopecia, especially in certain breeds. Dogs with one copy of the d allele will not be dilute, but can pass the d allele on to their puppies.

Citations: Drogemuller et al 2007 , Bauer et al 2018

More information: http://www.doggenetics.co.uk/dilutes.html

Dogs with two copies of the b allele produce brown pigment instead of black in both their hair and skin. Dogs with one copy of the b allele will produce black pigment, but can pass the b allele on to their puppies. E Locus ee dogs that carry two b alleles will have red or cream coats, but have brown noses, eye rims, and footpads (sometimes referred to as "Dudley Nose" in Labrador Retrievers). “Liver” or “chocolate” is the preferred color term for brown in most breeds; in the Doberman Pinscher it is referred to as “red”.

Citations: Schmutz et al 2002

More information: http://www.doggenetics.co.uk/liver.html

Dogs with one or two copies of the F allele have “furnishings”: the mustache, beard, and eyebrows characteristic of breeds like the Schnauzer, Scottish Terrier, and Wire Haired Dachshund. A dog with two I alleles will not have furnishings, which is sometimes called an “improper coat” in breeds where furnishings are part of the breed standard. The mutation is a genetic insertion which we measure indirectly using a linkage test highly correlated with the insertion. WHAT’S THIS?

Citations: Cadieu et al 2010

The FGF5 gene is known to affect hair length in many different species, including cats, dogs, mice, and humans. In dogs, the T allele confers a long, silky haircoat as observed in the Yorkshire Terrier and the Long Haired Whippet. The ancestral G allele causes a shorter coat as seen in the Boxer or the American Staffordshire Terrier. In certain breeds (such as Corgi), the long haircoat is described as “fluff.”

Citations: Housley & Venta 2006 , Cadieu et al 2010

Dogs with at least one copy of the ancestral C allele, like many Labradors and German Shepherd Dogs, are heavy or seasonal shedders, while those with two copies of the T allele, including many Boxers, Shih Tzus and Chihuahuas, tend to be lighter shedders. Dogs with furnished/wire-haired coats caused by RSPO2 (the furnishings gene) tend to be low shedders regardless of their genotype at this gene.

Citations: Hayward et al 2016

Dogs with a long coat and at least one copy of the T allele have a wavy or curly coat characteristic of Poodles and Bichon Frises. Dogs with two copies of the ancestral C allele are likely to have a straight coat, but there are other factors that can cause a curly coat, for example if they at least one F allele for the Furnishings (RSPO2) gene then they are likely to have a curly coat. Dogs with short coats may carry one or two copies of the T allele but still have straight coats.

Citations: Cadieu et al 2010

A duplication in the FOXI3 gene causes hairlessness over most of the body as well as changes in tooth shape and number. This mutation occurs in Peruvian Inca Orchid, Xoloitzcuintli (Mexican Hairless), and Chinese Crested (other hairless breeds have different mutations). Dogs with the NDup genotype are likely to be hairless while dogs with the NN genotype are likely to have a normal coat. The DupDup genotype has never been observed, suggesting that dogs with that genotype cannot survive to birth. Please note that this is a linkage test, so it may not be as predictive as direct tests of the mutation in some lines. WHAT’S THIS?

Citations: Drogemuller et al 2008

Dogs with two copies DD of this deletion in the SLC45A2 gene have oculocutaneous albinism type 2 (OCA2), also known as Doberman Z Factor Albinism, a recessive condition characterized by severely reduced or absent pigment in the eyes, skin, and hair. Affected dogs sometimes suffer from vision problems due to lack of eye pigment (which helps direct and absorb ambient light) and are prone to sunburn. Dogs with a single copy of the deletion ND will not be affected but can pass the mutation on to their offspring. This particular mutation can be traced back to a single white Doberman Pinscher born in 1976, and it has only been observed in dogs descended from this individual. Please note that this is a linkage test, so it may not be as predictive as direct tests of the mutation in some lines. WHAT’S THIS?

Citations: Winkler et al 2014

Dogs in medium-length muzzle (mesocephalic) breeds like Staffordshire Terriers and Labradors, and long muzzle (dolichocephalic) breeds like Whippet and Collie have one, or more commonly two, copies of the ancestral C allele. Dogs in many short-length muzzle (brachycephalic) breeds such as the English Bulldog, Pug, and Pekingese have two copies of the derived A allele. At least five different genes affect muzzle length in dogs, with BMP3 being the only one with a known causal mutation. For example, the skull shape of some breeds, including the dolichocephalic Scottish Terrier or the brachycephalic Japanese Chin, appear to be caused by other genes. Thus, dogs may have short or long muzzles due to other genetic factors that are not yet known to science.

Citations: Schoenbeck et al 2012

Whereas most dogs have two C alleles and a long tail, dogs with one G allele are likely to have a bobtail, which is an unusually short or absent tail. This mutation causes natural bobtail in many breeds including the Pembroke Welsh Corgi, the Australian Shepherd, and the Brittany Spaniel. Dogs with GG genotypes have not been observed, suggesting that dogs with the GG genotype do not survive to birth.
Please note that this mutation does not explain every natural bobtail! While certain lineages of Boston Terrier, English Bulldog, Rottweiler, Miniature Schnauzer, Cavalier King Charles Spaniel, and Parson Russell Terrier, and Dobermans are born with a natural bobtail, these breeds do not have this mutation. This suggests that other unknown genetic mutations can also lead to a natural bobtail.

Citations: Haworth et al 2001 , Hytonen et al 2009

Common in certain breeds such as the Saint Bernard, hind dewclaws are extra, nonfunctional digits located midway between a dog's paw and hock. Dogs with at least one copy of the T allele have about a 50% chance of having hind dewclaws. Note that other (currently unknown to science) mutations can also cause hind dewclaws, so some TT or TC dogs will have hind dewclaws.

Citations: Park et al 2008

Embark researchers discovered this large duplication associated with blue eyes in Arctic breeds like Siberian Husky as well as tri-colored (non-merle) Australian Shepherds. Dogs with at least one copy of the duplication (Dup) are more likely to have at least one blue eye. Some dogs with the duplication may have only one blue eye (complete heterochromia) or may not have blue eyes at all; nevertheless, they can still pass the duplication and the trait to their offspring. NN dogs do not carry this duplication, but may have blue eyes due to other factors, such as merle. Please note that this is a linkage test, so it may not be as predictive as direct tests of the mutation in some lines. WHAT’S THIS?

Citations: Deane-Coe et al 2018

The I allele is associated with smaller body size.

Citations: Sutter et al 2007

The A allele is associated with smaller body size.

Citations: Hoopes et al 2012

The A allele is associated with smaller body size.

Citations: Rimbault et al 2013

The A allele is associated with smaller body size.

Citations: Rimbault et al 2013

The T allele is associated with smaller body size.

Citations: Rimbault et al 2013

This mutation causes dogs to be especially tolerant of low oxygen environments (hypoxia), such as those found at high elevations. Dogs with at least one A allele are less susceptible to "altitude sickness." This mutation was originally identified in breeds from high altitude areas such as the Tibetan Mastiff.

Citations: Gou et al 2014

This mutation in the POMC gene is found primarily in Labrador and Flat Coated Retrievers. Compared to dogs with no copies of the mutation (NN), dogs with one (ND) or two (DD) copies of the mutation are more likely to have high food motivation, which can cause them to eat excessively, have higher body fat percentage, and be more prone to obesity. Read more about the genetics of POMC, and learn how you can contribute to research, in our blog post. We measure this result using a linkage test. WHAT’S THIS?

Citations: Raffan et al 2016