MC1R including Mask, Grizzle, and Red/Cream (E Locus)

Quick Summary

The melanocortin 1 receptor (MC1R) gene controls production of the pigments eumelanin (black) and phaeomelanin (red/yellow). Six known variants of this gene are responsible for producing markings and coat colors including melanistic mask, grizzle/domino, black, and shades of red/yellow.

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Phenotype: See "Additional Details" section for detailed descriptions and examples of each phenotype.

Mode of Inheritance: Autosomal, allelic series with the following order of dominance Em > Eg > E > e1-3

Alleles:
Em= Melanistic mask
Eg = Grizzle
E = Black
e1 = Red/yellow 
e2 = Australian Cattle Dog cream color variant (version of red/yellow)
e3 = Husky pale yellow/white variant (version of red/yellow)

Breeds appropriate for testing: Many breeds

Explanation of Results:

► Melanistic Face Mask: Dogs with Em genotype will produce melanistic face mask markings, but the visibility of the mask depends on the dog's overall coat color and whether or not expression is overridden by other genes such as white spotting. Dark-coated dogs may have a mask that is indistinguishable from body color.

  • Dogs with Em/Em genotype will transmit this melanistic face mask variant to all of their offspring.
  • Dogs with Em/Eg, Em/E, Em/e1, Em/e2, or Em/e3 will transmit this melanistic face mask variant to 50% of their offspring.

► Grizzle: Dogs with Eg/Eg, Eg/E, or Eg/e1 genotype will produce grizzle markings when the Dominant Black (K Locus) variant is not present (N/N) and the agouti gene is at/at. These grizzle variants are only expected among Afghan Hounds and Salukis.

  • Dogs with Eg/Eg genotype will transmit this grizzle variant to all of their offspring.
  • Dogs with Eg/E or Eg/e1 genotype will transmit this grizzle variant to 50% of their offspring.

► Black (E Locus): Dogs with E/E, E/e1, E/e2, or E/e3 genotype can produce black pigment in their coats, but the overall coat color exhibited by the dog is also dependent on other genes.

  • Dogs with E/E genotype will transmit this black pigment variant to all of their offspring.
  • Dogs with E/e1, E/e2, or E/e3 will transmit this black pigment variant to 50% of their offspring, and are carriers of red/yellow variants. Matings between two carriers of red/yellow are predicted to produce 25% of puppies with red/yellow-based coat colors.

► Red/Yellow (E Locus): Dogs with e1/e1-3, e2/e2, or e3/e3 genotype have inhibited black pigment production in their coats, leading to shades of cream, yellow, and/or red.

  • Dogs with e1/e1-3 genotype are predicted to have coats in shades of cream, yellow, and/or red. They will transmit a red/yellow variant to all of their offspring.
  • Dogs with e2/e2 genotype are expected only among Australian Cattle Dogs and their crossbreds and are predicted to have pale cream-colored coats. They will transmit this variant to all of their offspring.
  • Dogs with e3/e3 genotype are expected only among Siberian and Alaskan Huskies and their crossbreds and are predicted to have pale yellow or white coats. They will transmit this variant to all of their offspring.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$70 two tests for coat color/fur type/bobtail (same animal) 
$90 three tests for coat color/fur type/bobtail (same animal)
+ $15 each additional test if ordering more than three coat color/fur type/bobtail tests on the same animal 

Panels Available
Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Additional Details

The production of the two pigments eumelanin (black) and phaeomelanin (red/yellow) is controlled by the melanocortin 1 receptor (MC1R) gene, also known as Extension. Some dog breeds are fixed for either black or red pigment, such as the Large Munsterlander for black and Irish Setters for red.  The VGL tests for six known alleles (variants) of this gene: melanistic mask (Em), grizzle (Eg), black (E), red/yellow (e1), cream (e2), and pale yellow/white (e3).  The variants e1, e2, and e3 are recessive while Em and Eg are dominant.  When there are multiple alleles for a given gene with some dominant and some recessive they are described as an allelic series.  In dogs the MC1R allelic series has the following order of dominance Em > Eg > E > e1-3. 

German Shepherd Dog with melanistic face mask markings
Melanistic face mask on a German Shepherd Dog

Melanistic face mask is found in a variety of breeds including but not limited to Afghans, Akitas, Boxers, French Bulldogs, German Shepherds, Great Danes, Greyhounds, Pug Dogs and Whippets. Dogs that are overall eumelanistic (black, blue or brown) may have the mask but it is indistinguishable from the body color. Dogs with white muzzles may have the mask gene but expression is overridden by white spotting patterns. The mask phenotype is caused by the Em variant at the MC1R gene.

Afghan Hound with grizzle markings
Grizzle markings on an Afghan Hound

Grizzle (also called domino) is a pattern of dark pigment (eumelanin) on the dorsal surface of the head, body and tops of the legs; light pigment (phaeomelanin) is present on the lower legs, undersides and up the face around the eyes. The distinctive face pattern is often referred to as a widow’s peak. This variant has only been seen in Afghan and Saluki hounds. Grizzle can only be expressed when the Dominant Black (K Locus) variant is not present (N/N) and the agouti gene is at/at.

Yellow Labrador Retriever and red Irish Setter
A yellow Labrador Retriever and red Irish Setter

Red/Yellow is widespread and found in the homozygous state (two copies of variant) in many dogs that are uniformly yellow, red, or cream-colored. The pale cream color produced by the e2 variant occurs in Australian Cattle Dog and appears limited to this breed and its crossbreds. The pale yellow/white color produced by the e3 variant occurs in Siberian and Alaskan Huskies and appears to be limited to these breed and their crossbreds.

This test for MC1R screens for all 6 variants to provide a complete analysis of the genotype of a dog for this gene and a better understanding of phenotype and breeding expectations.

Type of Sample
Interdental/GUM brushes - supplied by owner
Cytology Brush - supplied by VGL at no additional charge

Species

Dog

Breed

AMB/AMBOR Affenpinscher Afghan Hound Africanis Aidi Ainu Dog Airedale Terrier Akbash Dog Akita: American type Akita: Blend, Other Akita: Japanese type Akita: Unregistered Alaskan Husky Alaskan Klee Kai Alaskan Malamute Alaskan Sled Dog Alpine Dachsbracke American Bandogge Mastiff American Blue Gascon Hound American Bulldog American Bully American Eskimo, Miniature American Eskimo, Standard American Eskimo, Toy American Foxhound American Hairless Terrier American Pit Bull Terrier American Staffordshire Terrier American Water Spaniel Anatolian Shepherd Dog Anglo-Francais de Moyen Venerie Anglo-Francais de Petite Venerie Appenzeller Ariegeois Armant Aryan Molossus Aussiedoodle Australian Cattle Dog Australian Cobberdog Australian Domestic Dog Australian Kelpie Australian Labradoodle Australian Shepherd Australian Shepherd, Miniature Australian Terrier Austrian Black & Tan Hound Austrian Pinscher Austrian Shorthaired Pinscher Austrian Smoothhaired Hound Azawakh Bali Street Dog Barbet Basenji Basque Sheepdog Basset Artesian Normand Basset Bleu de Gascogne Basset Fauve de Bretagne Basset Hound Bavarian Mountain Hound Beagle Beagle Harrier Bearded Collie Beauceron Bedlington Terrier Belgian Griffon Belgian Laekenois Belgian Malinois Belgian Mastiff Belgian Sheepdog Belgian Tervuren Bergamasco Berger Picard Berger de Pyrenees, Smooth Muzzled Berger du Languedoc Berner Laufhund Berner Neiderlaufhund Bernese Mountain Dog Bichon Frise Biewer Biewer Terrier Biewer Yorkshire Terrier Biewer, Biro Billy Black & Tan Coonhound Black Forest Hound Black Mouth Cur Black Russian Terrier Bloodhound Blue Lacy Bluetick Coonhound Bolognese Border Collie Border Collie Cross Border Terrier Borzoi Bosnian Roughhaired Hound Boston Terrier Bouvier Des Ardennes Bouvier Des Flandres Boxer Boykin Spaniel Bracco Italiano Braque Dupuy Braque Francais, de Grande Taille Braque Francais, de Petite Taille Braque Saint-Germain Braque d'Auvergne Braque de l'Ariège Braque du Bourbonnais Brazilian Terrier Briard Briquet Griffon Vendeen Brittany Broholmer Bruno Jura Laufhund Brussels Griffon Bull Terrier Bulldog Bullmastiff CB Romanesc Carpatin Ca De Bestier Cairn Terrier Canaan Dog Canadian Cur Canadian Eskimo Dog Cane Corso Canis lupus Cardigan Welsh Corgi Carolina Dog Catahoula Leopard Dog Catalan Sheepdog Caucasian Ovcharka Cavalier King Charles Spaniel Central Asian Shepherd Cesky Fousek Cesky Terrier Chart Polski Chesapeake Bay Retriever Chien Francais Blanc et Noir Chien Francais Blanc et Orange Chien Francais Blanc et Tricolore Chien d'Artois Chihuahua Chinese Crested Chinese Foo Dog Chinook Chortaj Chow Chow Cimarron Uruguayo Cirneco dell'Etna Clumber Spaniel Cockapoo Cocker Spaniel, American Cocker Spaniel, Unknown Variety Collie Cook Island Feral Dog Coton de Tulear Coyote Croatian Sheepdog Crossbred Curly-Coated Retriever Czech Wolfdog Czechoslovakian Vlcak Dachshund Dalmatian Dandie Dinmont Terrier Danish Broholmer Danish/Swedish Farmdog Denmark Feist Deutsch Kooiker Deutsch-Drahthaar Deutsche Bracke Deutscher Wachtelhund Dingo Doberman Pinscher Dogo Argentino Dogue de Bordeaux Drentse Patrijshond Drever Dunker Dutch Malinois Dutch Shepherd, Longhaired Dutch Shepherd, Roughhaired Dutch Shepherd, Shorthaired Dutch Smoushond East European Shepherd East Siberian Laika English Bulldog English Cocker Spaniel English Coonhound English Foxhound English Mastiff English Setter English Shepherd English Springer Spaniel English Toy Spaniel English Toy Terrier Entlebucher Epagneul Bleu de Picardie Epagneul Breton Epagneul Francais Epagneul Picard Epagneul Pont-Audemer Estonian Hound Estrela Mountain Dog Eurasian Farm Collie Fell Hound Fell Sheepdog Field Spaniel Fila Brasileiro Finnish Hound Finnish Lapphund Finnish Spitz Flat-Coated Retriever Fox Fox Terrier, Smooth Fox Terrier, Wire French Bulldog Galgo Espanol German Drahthaar German Hunt Terrier German Longhaired Pointer German Pinscher German Sheeppoodle German Shepherd German Shorthaired Pointer German Wirehaired Pointer German Wolfspitz Giant German Spitz Giant Schnauzer Glen of Imaal Terrier Golden Retriever Goldendoodle Gordon Setter Gr Ang-Fr Tricolor Hound Gr Ang-Fr W & B Hound Gr Ang-Fr W & O Hound Grand Anglo-Francais Grand Basset Griffon Vendeen Grand Bleu de Gascogne Grand Gascon-Saintongeois Grand Griffon Vendeen Great Dane Great Pyrenees Greater Swiss Mountain Dog Greek Harehound Greek Sheepdog Greenland Dog Greyhound Griffon Bleu De Gascogne Griffon Fauve de Bretagne Griffon Nivernais Haldenstovare Hamiltonstovare Hanoverian Hound Harlequin Pinscher Harrier Havana Silk Havanese Hawaiian Poi Dog Heading Dog Hertha Pointer Hovawart Huntaway Hygenhund Ibizan Hound Iceland Dog Inca Hairless Dog Inuit Sled Dog Inuit Sled Dog Mix Irish Red & White Setter Irish Setter Irish Terrier Irish Water Spaniel Irish Wolfhound Islandsk Farehund Istrian Hound, Smoothhaired Istrian Hound, Wirehaired Italian Greyhound Italian Hound Jack Russell Terrier Japanese Chin Japanese Spitz Japanese Terrier Jindo Dog Jura Neiderlaufhund Kai Dog Kangal Dog Kangaroo Dog Karakachan Karelian Bear Dog Karelo-Finnish Laika Kayo Inu Keeshond Kerry Beagle Kerry Blue Terrier King Shepherd Kintamani Dogs Kishu Komondor Kooikerhondje Koolie Korean German Shepherd Kraski Ovcar Kromfohrlander Kuvasz Kyi Leo Labradoodle Labrador Retriever LabxGolden Laekense Lagotto Romagnolo Lakeland Terrier Lamalese Lancashire Heeler Landseer Lapinporokoira Lapponian Herder Large Munsterlander Large Spanish Hound Latvian Hound Leonberger Leopard Cur Leopard Hound Levesque Lhasa Apso Lithuanian Hound Llewellin Setter Lowchen Lundehund Lurcher Luzerner Laufhund Luzerner Neiderlaufhund Magyar Agar Majestic Tree Hound Maltese Manchester Terrier Manchester Terrier, Toy Maremma Sheepdog Mastiff Matthes Lion Hound McNab Mi-Ki Middle Asian Owtcharka Miniature American Shepherd Miniature Bull Terrier Miniature Goldendoodle Miniature Pinscher Montenegrin Mountain Hound Moscow Longhaired Toy Terrier Moscow Watchdog Mountain Cur Mudi Mullins Feist Native American Indian Dog Neapolitan Mastiff New Guinea Singing Dog Newfoundland Norfolk Terrier Norrbottenspets North American Shepherd Northeasterly Hauling Laika Norwegian Buhund Norwegian Elkhound Norwegian Elkhound, Black Norwegian Lundehund Norwich Terrier Nova Scotia Duck Tolling Retriever Old Danish Bird Dog Old English Sheepdog Olde English Bulldogge Otterhound Owczarek Podhalanski Papillon Parson Russell Terrier Patterdale Terrier Pekingese Pembroke Welsh Corgi Perdiguero Navarro Perdiguero Portugueso Perdiguero de Burgos Perro de Pastor Mallorquin Perro de Presa Canario Perro de Presa Mallorquin Peruvian Hairless Dog Peruvian Inca Orchid Petit Basset Griffon Vendeen Petit Bleu de Gascogne Petit Brabancon Petit Gascon-Saintongeois Petit Griffon Bleu de Gascogne Phalene Pharaoh Hound Pit Bull Plott Hound Podenco Canario Podengo Portugueso Grande Podengo Portugueso Medio Podengo Portugueso Pequeno, Smooth Podengo Portugueso Pequeno, Wirehaired Pointer Poitevin Polish Hound Polish Lowland Sheepdog Polish Owczarek Podhalanski Polski Owczarek Nizinny Pomeranian Pomsky Poodle, Miniature Poodle, Standard Poodle, Toy Poongsan Dog Porcelaine Portuguese Cattle Dog Portuguese Pointer Portuguese Sheepdog Portuguese Water Dog Posavac Hound Prager Ratter Pudelpointer Pug Puli Pumi Pyrenean Mastiff Pyrenean Shepherd Rafeiro do Alentejo Rat Terrier Red & White Setter Redbone Hound Rhodesian Ridgeback Ridgeback Cross Rottweiler Rumanian Sheepdog Russell Terrier Russian Harlequin Hound Russian Hound Russian Samoyed Laika Russian Spaniel Russkiy Toy Russo-European Laika Saarlooswolfhond Sabuesos Espanol Lebrero Sabuesos Espanol de Monte Saint Bernard Saint Hubert Jura Laufhund Saint Usage Spaniel Saluki Samoyed Sanshu Dog Santal Hound Sapsaree Sarplaninac Schapendoes Schillerstovare Schipperke Schnauzer, Miniature Schnauzer, Standard Schweizer Laufhund Schweizer Neiderlaufhund Scottish Collie Scottish Deerhound Scottish Terrier Sealyham Terrier Segugio Italiano a Pelo Forte Segugio Italiano a Pelo Raso Seppala Siberian Sleddog Serbian Hound Serbian Tricolor Hound Shar Pei Shetland Sheepdog Shiba Inu Shih Tzu Shikoku Shiloh Shepherd Dog Shiloh Shepherd, ISSA Siberian Husky Silken Windhound Silky Terrier Skye Terrier Sloughi Slovak Cuvac Slovakian WH Pointing Dog Smalandsstovare Small German Spitz Small Munsterlander Soft Coated Wheaten Terrier South African Boerboel Mastiff South Russian Ovcharka South Russian Steppe Hound Spanish Alano Spanish Mastiff Spanish Water Dog Spinone Italiano Sporting Lucas Terrier Springer Spaniel Sri Lankan Dog Stabyhoun Staffordshire Bull Terrier Standard German Spitz Stephens Stock Stichelhaar Strellufstover Stumpy-Tail Cattle Dog Styrian Roughhaired Mountain Hound Sudanese Dog Sussex Spaniel Swedish Elkhound Swedish Lapphund Swedish Vallhund Tahltan Bear Dog Taigan Tamaskan Tasy Teddy Roosevelt Terrier Telomian Tengger Dog Tenterfield Terrier Thai Ridgeback Thornburg Feist Tibetan Mastiff Tibetan Spaniel Tibetan Terrier Tosa Inu Tosa Ken Toy Fox Terrier Toy German Spitz Transylvanian Hound, Long Transylvanian Hound, Short Treeing Feist Treeing Tennessee Brindle Treeing Walker Coonhound Turkish Feral Dog Turkish Greyhound Tyrolean Hound Tyroler Bracke Unknown Vasgotaspets Vizsla Volpino Italiano Walker Coonhound Weimaraner Welsh Hound Welsh Sheepdog Welsh Springer Spaniel Welsh Terrier West Highland White Terrier West Siberian Laika Westphalian Dachsbracke Wetterhoun Whippet Whippet, Longhaired Cross White Shepherd Windsprite (Longhaired Whippet) Wirehaired Pointing Griffon Wirehaired Vizsla Wolf Wolf Hybrid Working Dog X-Bred Coonhound Xoloitzcuintli Xoloitzcuintli, Toy Yorkshire Terrier
+ View All Breeds
Type of Test
Coat Color and/or Type
Results Reported As
Test Result MC1R
Em/Em 2 copies of mask.
Em/Eg 1 copy of mask and 1 copy of grizzle.
Em/E 1 copy of mask and 1 copy of black.
Em/e1 1 copy of mask and 1 copy of red/yellow/cream.
Em/e2 1 copy of mask and 1 copy of red/yellow/cream.
Em/e3 1 copy of mask and 1 copy of red/yellow/cream.
Eg/Eg 2 copies of grizzle.
Eg/E 1 copy of grizzle and 1 copy of black.
Eg/e1 1 copy of grizzle and 1 copy of red/yellow/cream.
E/E 2 copies of black.
E/e1 1 copy of black and 1 copy of red/yellow/cream.
E/e2 1 copy of black and 1 copy of red/yellow/cream.
E/e3 1 copy of black and 1 copy of red/yellow/cream.
e1/e1 2 copies of red/yellow/cream.
e1/e2 2 copies of red/yellow/cream.
e1/e3 2 copies of red/yellow/cream.
e2/e2 2 copies of red/yellow/cream.
e3/e3 2 copies of red/yellow/cream.
References

Newton, J.M., Wilkie, A.L., He, L., Jordan, S.A., Metallinos, D.L., Holmes, N.G., Jackson, I.J., & Barsh, G.S. (2000). Melanocortin 1 receptor variation in the domestic dog. Mammalian Genome, 11, 24-30. doi: 10.1007/s003350010005

Schmutz, S.M., Berryere, T.G., Ellinwood, N.M., Kerns, J.A., & Barsh, G.S. (2003). MC1R studies in dogs with melanistic mask or brindle patterns. Journal of Heredity, 94(1), 69-73. doi: 10.1093/jhered/esg014

Dreger, D.L., & Schmutz, S.M. (2010). A new mutation in MC1R explains a coat color phenotype in 2 “old” breeds: Saluki and Afghan hounds. Journal of Heredity, 101(5), 644-649. doi: 10.1093/jhered/esq061

Dürig, N., Letko, A., Lepori, V., Rasouliha, S.H., Loechel, R., Kehl, A., Hytönen, M.K., Lohi, H., Mauri, N., Dietrich, J., Wiedmer, M., Drögemüller, M., Jagannathan, V., Schmutz, S.M., & Leeb, T. (2018). Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Animal Genetics, 49(4), 284-290. doi: 10.1111/age.12660

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