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E Locus - (Cream/Red/Yellow)

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Description:

The extension gene (MCR1R) is responsible for producing phaeomelanin (yellow) pigment.  Two copies of the MCR1 mutation will cause the expression of a solid yellow colour. Yellow is also referred to as yellow, white, golden, ruby or apricot as this variation is not only breed variation but also impact of other colour loci results - B, A, K and D Locus.

Test Overview:

The MC1R gene, also known as the extension (E) Locus, controls the production of eumelanin (black pigment) in the melanocytes. The dominant form of the MC1R gene (E) allows for normal production of eumelanin in the melanocytes.The two major pigments that impact canine coat color are eumelanin (black pigment) and phaeomelanin (yellow/red pigment) referred to as the extension (E) locus. These pigments are produced within specialized cells called melanocytes located in the canine epidermis and hair follicles. Within the melanocyte, the pigments are made in tiny organelles called melanosomes. The melanosomes are continually being transferred from the melanocytes to the surrounding keratinocyte cells that make up the hair and skin, thereby giving the skin and hair specific color based on the type of pigment they contain. However, a DNA variant in the MC1R gene (e) shuts down production of eumelanin (black pigment) in the melanocytes leaving only the production of phaeomelanin (yellow/red pigment) in the melanocytes. Because e is recessive, two copies of this MC1R e variant must be present to express the solid “yellow/red” coat color. A dog that has two copies of E (E/E) will not have a yellow/red coat and will not be capable of passing on a yellow/red coat color Allele to its offspring.

Category:

Trait (Associated with Phenotype)

Gene:

MC1R

Variant Detected:

Em (point mutation) > E (wild type) > e (point mutation) chr5:63694334-63694334: C>T

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):


"Conditions Associated with Coat Color in Dogs." University of Saskatchewan. University of Saskatchewan, 02 June 2011. Web. 03 Apr. 2014. .
Dog Coat Colour Genetics http://doggenetics.co.uk/
Animal Genetics. 2000 Jun; 31(3):194-99. [PubMed: 10895310]

Associated Breed(s):

Affenpinscher, Afghan Hound, Airedale Terrier, Akita , Alaskan Malamute, American Bulldog , American Cocker Spaniel, American Eskimo Dog, American Foxhound, American Pit Bull Terrier, American Staffordshire Terrier, Anatolian Shepherd, Aussiedoodle, Australian Bulldog, Australian Cattle Dog, Australian Cobberdog, Australian Kelpie, Australian Labradoodle , Australian Shepherd, Australian Silky Terrier, Australian Stumpy Tail Cattle Dog, Australian Terrier, Basenji, Basset Hound, Beagle, Bearded Collie , Bedlington Terrier, Belgian Groenendael Shepherd, Belgian Lakenois Shepherd, Belgian Malinois Shepherd, Belgian Tervueren Shepherd , Bernedoodle, Bernese Mountain Dog, Bichon Frise, Black Russian Terrier , Bloodhound, Boerboel, Border Collie, Border Terrier, Borzoi, Boston Bulldog, Boston Terrier, Bouvier Des Flandres, Boxer , Boykin Spaniel, Briard, British Bulldog, Brittany Spaniel , Bull Arab, Bull Terrier, Bullmastiff, Cairn Terrier, Canaan Dog, Cane Corso Italiano, Cardigan Welsh Corgi, Cardigan Welsh Corgi, Catahoula, Catahoula Leopard Dog, Cavalier King Charles Spaniel, Cavoodle, Chesapeake Bay Retriever , Chihuahua, Chinese Crested, Chow Chow, Clumber Spaniel , Cockapoo, Cocker Spaniel, Collie Rough, Collie Smooth, Colonial Cocker Spaniel, Coonhound, Coton De Tulear, Curly Coated Retriever, Dachshund , Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dalmatian, Dandie Dinmont Terrier, Dingo, Dobermann, Dogue de Bordeaux, Double Doodle, English Setter , English Springer Spaniel, English Toy Spaniel , English Toy Terrier, Field Spaniel, Finnish Lapphund, Flat Coated Retriever, Fox Terrier (Toy), Foxhound , French Bulldog, German Shepherd Dog, German Shorthaired Pointer, German Spitz , Giant Schnauzer, Golden Retriever, Goldendoodle, Gordon Setter , Great Dane, Great Pyrenees, Greyhound , Griffon Bruxellois - Standard, Groodle, Harlequin Pinscher, Havanese, Havanese Terrier Toy, Hungarian Kuvasz, Hungarian Vizsla, Ibizan Hound, Irish Setter, Irish Terrier, Irish Wolfhound, Italian Greyhound, Italian Spinone, Jack Russell Terrier, Jagd Terrier, Japanese Chin, Japanese Shiba Inu, Japanese Spitz, Keeshond, Kerry Blue Terrier, Komondor, Koolie , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever, Lagotto Romagnolo, Lakeland Terrier , Lancashire Heeler, Landseer ECT, Lapponian Herder, Leonberger, Lhasa Apso, Lowchen, Maltese, Manchester Terrier , Maremma Sheepdog, Mastiff , Miki, Miniature American Shepherd, Miniature Bull Terrier, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Miniature Fox Terrier, Miniature Pinscher , Miniature Poodle, Miniature Schnauzer, Miniature Yorkshire Terrier, Mixed Breed, Moodle, Mountain Dog , Moyen Poodle, Munsterlander, Murray River Retriever, Neapolitan Mastiff, Newfoundland, Norfolk Terrier , Norwegian Elkhound, Norwich Terrier, Nova Scotia Duck Tolling Retriever , Old English Mastiff , Old English Sheepdog , Papillon, Parson Russell Terrier, Pekingese, Pembroke Welsh Corgi, Peruvian Hairless Dog, Plott Hound, Pomeranian, Portuguese Water Dog, Pug, Puli, Rat Terrier, Rhodesian Ridgeback , Rottweiler , Saint Bernard , Saluki, Samoyed, Schipperke, Schnoodle, Scottish Deerhound, Scottish Terrier , Sealydale Terrier, Sealyham Terrier , Shar Pei, Shetland Sheepdog, Shiba Inu, Shih tzu, Siberian Husky, Silky Terrier , Skye Terrier, Sloughi, Smithfield, Smooth Fox Terrier, Soft Coated Wheaten Terrier, Spoodle, Staffordshire Bull Terrier , Standard Poodle, Standard Schnauzer, Sussex Spaniel, Swedish Lapphund, Tenterfield Terrier , Tibetan Mastiff, Tibetan Spaniel, Tibetan Terrier , Toy Poodle, Volpino Italiano, Water Spaniel , Weimaraner, Welsh Springer Spaniel, West Highland White Terrier , Whippet , White Swiss Shepherd, Wire Fox Terrier, Xoloitzcuintle (Mexican Hairless), Yorkshire Terrier,
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