Genetic Result: E^me

Gene: Melanocortin Receptor 1 (MC1R)

This gene helps determine whether a dog can produce dark (black or brown) hairs or lighter yellow or red hairs. Any result except for ee means that the dog can produce dark hairs. An ee result means that the dog does not produce dark hairs at all, and will have lighter yellow or red hairs over their entire body.

If a dog has a ee result then the fur’s actual shade can range from a deep copper to yellow/gold to cream - the exact color cannot be predicted solely from this result, and will depend on other genetic factors.

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

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

Genetic Result: Bb

Gene: Tyrosinase Related Protein 1 (TYRP1)

This gene helps determine whether a dog produces brown or black pigments. Dogs with a bb result produce brown pigment instead of black in both their hair and skin, while dogs with a Bb or BB result produce black pigment. Dogs that have ee at the E (Extension) Locus and bb at this B (Brown) Locus are likely to have red or cream coats and brown noses, eye rims, and footpads, which is 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

Genetic Result: DD

Gene: Melanophilin (MLPH)

This gene helps determine whether a dog has lighter “diluted” pigment. A dog with a Dd or DD result will not be dilute. A dog with a dd result will have all their black or brown pigment lightened (“diluted”) to gray or light brown, and sometimes lightens red pigment to cream. This affects their fur, skin, and sometimes eye color.

There are many breed-specific names for these dilute colors, such as “blue”, “charcoal”, “fawn”, “silver”, and “Isabella”. Dilute dogs, especially in certain breeds, have a higher incidence of Color Dilution Alopecia which causes hair loss in some patches.

Citations: Drogemuller et al 2007 , Bauer et al 2018

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

Genetic Result: K^Bk^y

Gene: Canine Beta-Defensin 103 (CBD103)

This gene helps determine whether the dog has a black coat. Dogs with a k^yk^y result will show a coat color pattern based on the result they have at the A (Agouti) Locus. A K^BK^B or K^Bk^y result means the dog is dominant black, which overrides the fur pattern that would otherwise be determined by the A (Agouti) Locus. These dogs will usually have solid black or brown coats, or if they have ee at the E (Extension) Locus then red/cream coats, regardless of their result at the A (Agouti) Locus. Dogs who test as K^Bk^y may be brindle rather than black or brown.

Even if a dog is “dominant black” several other genes could still impact the dog’s fur and cause other patterns, such as white spotting.

Citations: Candille et al 2007

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

Genetic Result: a^ya^t

Gene: Agouti Signalling Protein (ASIP)

This gene is responsible for causing different coat patterns. It only affects the fur of dogs that do not have ee at the E (Extension) Locus and do have k^yk^y at the K (Dominant Black) Locus. It controls switching between black and red pigment in hair cells, which means that it can cause a dog to have hairs that have sections of black and sections of red/cream, or hairs with different colors on different parts of the dog’s body. Sable or Fawn dogs have a mostly or entirely red coat with some interspersed black hairs. Agouti or 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.

The ASIP gene causes interesting coat patterns in many other species of animals as well as dogs.

Citations: Berryere et al 2005 , Dreger and Schmutz 2011

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

Genetic Result: E^me

Gene: Melanocortin Receptor 1 (MC1R)

In addition to determining if a dog can develop dark fur at all, this gene 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 E^m in their result will have a mask, which is dark facial fur as seen in the German Shepherd and Pug. Dogs with no E^m in their result but one or two copies of E^g will instead have a "widow's peak", which is dark forehead fur.

The widow’s peak is 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

Genetic Result: NI

Gene: RALY

The RALY gene is responsible for the Saddle Tan coat pattern, where a dog's black hairs recede into a "saddle" shape on the back as the dog ages, leaving a tan face, legs, and belly. This gene only impacts dogs that have a^ta^t at the A (Agouti) Locus, do not have ee at the E (Extension) Locus, and do not have K^B at the K (Dominant Black) Locus. Dogs with one or two copies of the normal "N" allele are likely to have a saddle tan pattern. Dogs that with a II result (where "I" represents the mutant allele) are more likely to be mostly black with tan points on the eyebrows, muzzle, and legs as commonly seen in the Doberman Pinscher and the Rottweiler.

The Saddle Tan pattern is characteristic of breeds like the Corgi, Beagle, and German Shepherd.

Citations: Dreger et al 2013

Genetic Result: mm

Gene: PMEL

This gene is responsible for mottled or patchy coat color in some dogs. Dogs with an M*m result are likely to have merle coat patterning or be "phantom" merle (where the merle allele is not obvious in their coat). Dogs with an M*M* result are likely to have merle or double merle coat patterning. Dogs with an mm result are unlikely to have a merle coat pattern.

Merle coat patterning is common to several dog breeds including the Australian Shepherd, Catahoula Leopard Dog, and Shetland Sheepdog.

Citations: Clark et al 2006

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

Genetic Result: II

Gene: RSPO2

This gene is responsible for “furnishings”, which is another name for the mustache, beard, and eyebrows that are characteristic of breeds like the Schnauzer, Scottish Terrier, and Wire Haired Dachshund. A dog with an FF or FI result is likely to have furnishings. A dog with an II result will not have furnishings. We measure this result using a linkage test. WHAT’S THIS?

In breeds that are expected to have furnishings, dogs without furnishings are the exception - this is sometimes called an “improper coat”.

Citations: Cadieu et al 2010

Genetic Result: TT

Gene: FGF5

This gene is known to affect hair/fur length in many different species, including cats, dogs, mice, and humans. In dogs, a TT result means the dog is likely to have a long, silky coat as seen in the Yorkshire Terrier and the Long Haired Whippet. A GG or GT result is likely to mean a shorter coat, like in the Boxer or the American Staffordshire Terrier.

In certain breeds, such as Corgi, the long coat is described as “fluff.”

Citations: Housley & Venta 2006 , Cadieu et al 2010

Genetic Result: CT

Gene: MC5R

This gene affects how much a dog sheds. Dogs with furnishings or wire-haired coats tend to be low shedders regardless of their result for this gene. In other dogs, a CC or CT result indicates heavy or seasonal shedding, like many Labradors and German Shepherd Dogs. Dogs with a TT result tend to be lighter shedders, like Boxers, Shih Tzus and Chihuahuas.

Citations: Hayward et al 2016

Genetic Result: CC

Gene: KRT71

For dogs with long fur, dogs with a TT or CT result will likely have a wavy or curly coat like the coat of Poodles and Bichon Frises. Dogs with a CC result will likely have a straight coat—unless the dog has a "Likely Furnished" result for the Furnishings trait, since this can also make the coat more curly.

Dogs with short coats may have straight coats, whatever result they have for this gene.

Citations: Cadieu et al 2010

Genetic Result: NN

Gene: FOXI3

This gene can cause hairlessness over most of the body as well as changes in tooth shape and number. This particular gene occurs in Peruvian Inca Orchid, Xoloitzcuintli (Mexican Hairless), and Chinese Crested; other hairless breeds are due to different genes. Dogs with the NDup result are likely to be hairless while dogs with the NN result are likely to have a normal coat. We measure this result using a linkage test. WHAT’S THIS?

The DupDup result has never been observed, suggesting that dogs with that genotype cannot survive to birth.

Citations: Drogemuller et al 2008

Genetic Result: NN

Gene: SGK3

This gene is responsible for Hairlessness in the American Hairless Terrier. Dogs with the ND result are likely to be hairless. Dogs with the NN result are likely to have a normal coat.

Citations: Parker et al 2016

Genetic Result: NN

Gene: SLC45A2

This gene causes oculocutaneous albinism type 2 (OCA2), also known as Doberman Z Factor Albinism. Dogs with a DD result will have OCA2. Effects include severely reduced or absent pigment in the eyes, skin, and hair, and sometimes vision problems due to lack of eye pigment (which helps direct and absorb ambient light) and are prone to sunburn. Dogs with a ND result will not be affected, but can pass the mutation on to their offspring. We measure this result using a linkage test. WHAT’S THIS?

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.

Citations: Winkler et al 2014

Genetic Result: AC

Gene: BMP3

This gene affects muzzle length. A dog with a AC or CC result is likely to have a medium-length muzzle like a Staffordshire Terrier or Labrador, or a long muzzle like a Whippet or Collie. A dog with a AA result is likely to have a short muzzle, like an English Bulldog, Pug, or Pekingese.

At least five different genes affect snout length in dogs, with BMP3 being the only one with a known causal mutation. For example, the muzzle length of some breeds, including the long-snouted Scottish Terrier or the short-snouted Japanese Chin, appear to be caused by other genes. This means your dog may have a long or short snout due to other genetic factors. Embark is working to figure out what these might be.

Citations: Schoenbeck et al 2012

Genetic Result: CC

Gene: T

This is one of the genes that can cause a short bobtail. Most dogs have a CC result and a long tail. Dogs with a CG result are likely to have a bobtail, which is an unusually short or absent tail. This can be seen in many “natural bobtail” 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 such a result do not survive to birth.

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, it is not always caused by this gene. This suggests that other unknown genetic effects can also lead to a natural bobtail.

Citations: Haworth et al 2001 , Hytonen et al 2009

Genetic Result: CC

Gene: LMBR1

This is one of the genes that can cause hind dew claws, which are extra, nonfunctional digits located midway between a dog's paw and hock. Dogs with a CT or TT result have about a 50% chance of having hind dewclaws. Hind dew claws can also be caused by other, still unknown, genes. Embark is working to figure those out.

Hind dew claws are commonly found in certain breeds such as the Saint Bernard.

Citations: Park et al 2008

Genetic Result: CC

Gene: ACSL4

This gene can cause heavy muscling along the back and trunk in characteristically "bulky" large-breed dogs including the Saint Bernard, Bernese Mountain Dog, Greater Swiss Mountain Dog, and Rottweiler. A dog with the TT result is likely to have heavy muscling. Leaner-shaped large breed dogs like the Great Dane, Irish Wolfhound, and Scottish Deerhound generally have a CC result. The TC result also indicates likely normal muscling.

This gene does not seem to affect muscling in small or even mid-sized dog breeds with lots of back muscling, including the American Staffordshire Terrier, Boston Terrier, and the English Bulldog.

Citations: Plassais et al 2017

Genetic Result: NN

Gene: ALX4

This gene is associated with blue eyes in Arctic breeds like Siberian Husky as well as tri-colored (non-merle) Australian Shepherds. Dogs with a DupDup or NDup result are more likely to have blue eyes, although some dogs may have only one blue eye or may not have blue eyes at all; nevertheless, they can still pass blue eyes to their offspring. Dogs with a NN result may have blue eyes due to other factors, such as merle or white spotting. We measure this result using a linkage test. WHAT’S THIS?

Embark researchers discovered this gene by studying data from dogs like yours. Who knows what we will be able to discover next? Answer the questions on our research surveys to contribute to future discoveries!

Citations: Deane-Coe et al 2018

Genetic Result: NI

Gene: IGF1

This is one of several genes that influence the size of a dog. A result of II for this gene is associated with smaller body size. A result of NN is associated with larger body size.

Citations: Sutter et al 2007

Genetic Result: GG

Gene: IGFR1

This is one of several genes that influence the size of a dog. A result of AA for this gene is associated with smaller body size. A result of GG is associated with larger body size.

Citations: Hoopes et al 2012

Genetic Result: TA

Gene: STC2

This is one of several genes that influence the size of a dog. A result of AA for this gene is associated with smaller body size. A result of TT is associated with larger body size.

Citations: Rimbault et al 2013

Genetic Result: GG

Gene: GHR - E191K

This is one of several genes that influence the size of a dog. A result of AA for this gene is associated with smaller body size. A result of GG is associated with larger body size.

Citations: Rimbault et al 2013

Genetic Result: CC

Gene: GHR - P177L

This is one of several genes that influence the size of a dog. A result of TT for this gene is associated with smaller body size. A result of CC is associated with larger body size.

Citations: Rimbault et al 2013

Genetic Result: GG

Gene: EPAS1

This gene causes dogs to be especially tolerant of low oxygen environments, such as those found at high elevations. Dogs with a AA or GA result will be less susceptible to "altitude sickness."

This gene was originally identified in breeds from high altitude areas such as the Tibetan Mastiff.

Citations: Gou et al 2014

Genetic Result: NN

Gene: POMC

This gene influences eating behavior. An ND or DD result would predict higher food motivation compared to NN result, increasing the likelihood 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?

POMC is actually short for "proopiomelanocortin," and is a large protein that is broken up into several smaller proteins that have biological activity. The smaller proteins generated from POMC control, among other things, distribution of pigment to the hair and skin cells, appetite, and energy expenditure.

Citations: Raffan et al 2016