Genetic Color Testing
Coat Color Background
Mammals have two pigments that form the basis of hair color and consist of Eumelanin (black) and Pheomelanin (red or yellow). The gene involved in the production of these pigments in many species including dogs is Melanocortin 1 Receptor (MC1R).
There are additional genes that modify these pigments to produce the variety of colors and patterns seen in domestic dogs. These include the Brown gene Tyrosinase-Related Protein 1 (TYRP1) which is a modifier that dilutes black pigment to brown but does not affect red pigment.
Other genes involved in dog coat color include Agouti (ASIP) which organizes the distribution of black and red pigments, Beta-defensin (CBD-103) which is unique to dogs and responsible for dominant black (K locus) and Dilute (MLPH) which dilutes black and red pigments. Other genes that add white patterns and dilute colors are also present in dogs but are specific to certain breeds.
Curly Coat Locus (CURL)
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Curly Coat Locus
Hair curl is an incomplete dominant characteristic caused by a mutation in the KRT71 gene. Incomplete dominance refers to the fact that a dog can carry one copy of the gene which will result in a moderately curly (known as “wavy”) coat or two copies of the mutation which will result in a tightly curled coat. Dogs lacking the mutation will typically have straight hair. This particular mutation can be found prevalently in some breeds that typically display a curly coat. The hair curl mutation can also be accompanied by the other mutations such as coat length and furnishings that can also contribute to the overall look of a dog’s coat.
Breeds
Airedale Terrier
American Water Spaniel
Bichon Frise
Border Collie
Boykin Spaniel
Chesapeake Bay Retriever
Chihuahua
Dachshund
Havana Silk Dog
Havanese
Kerry Blue Terrier
Kuvasz
Leonberger
Maltese
Pharaoh Hound
Portuguese Water Dog
Soft-Coated Wheaten Terrier
Welsh Terrier
Wire Fox Terrier
Results
A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will have straight hair.
B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with a curly coat type. Due to incomplete dominant expression, these dogs can have a “wavy” or moderately curly coat that is in the spectrum somewhere between a curly and a straight coat. They will also if bred, pass the mutation to 50% of its offspring, on average.
C (AT RISK/AFFECTED): These dogs have two copies of the mutation which typically results in a tight curly coat.
E Locus
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E Locus
A mutation in the MC1R gene (E locus) is responsible for the presence of yellow to red coats in many different domestic dog breeds. The dominant non-mutated form of the gene (“E” allele) allows the dog to produce a black pigment called Eumelanin. A mutation in the MC1R gene causes the pigment-producing cells to generate a yellow pigment called Pheomelanin. A dog must have two copies of the MC1R recessive mutation (represented as the “e” allele) to express the solid yellow coat color. This “ee” genotype can vary in expression ranging from yellow or red coloring to more subtle differences (apricot, cream or white) depending on the breed. It is important to note that the genetic cause of what is termed “Red” in some breeds (Dobermans, Australian Shepherds, etc.) is due to a mutation in B Locus and not E Locus.
Breeds
All breeds
Results
A (CLEAR/NORMAL): These dogs have two copies of the normal gene, will have a black-based coat and will not pass the mutation to their offspring.
B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with yellow to red coloring. They will have a black-based coat but will, if bred, pass the mutation to 50% of its offspring, on average.
C (AT RISK/AFFECTED): These dogs have two copies of the MC1R mutation associated with a yellow coat which results in a yellow to red coat coloring that varies by breed.
D-LOCUS
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D Locus
The MLPH gene codes for a protein called melanophilin, which is responsible for transporting and fixing melanin-containing cells. A mutation in this gene leads to improper distribution of these cells, causing a dilute coat color. This mutation is recessive so two copies of the mutated gene (or “d” allele) are needed to produce the dilute coat color. This mutation affects both Eumelanin and Pheomelanin pigments, so black, brown and yellow dogs are all affected by the dilution with the effect being more pronounced in black dogs. The mutation responsible for the dilution phenotype is recessive so a dog can be a carrier of the dilution gene and still appear to have a normal coat color. A diluted yellow (ee) dog is often referred to as a champagne.
Breeds
All breeds
Results
A (CLEAR/NORMAL): These dogs have two copies of the normal gene, will have an undiluted coat and will not pass the mutation to their offspring.
B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with dilute coat coloring. They will have an undiluted coat but will, if bred, pass the mutation to 50% of its offspring, on average.
C (AT RISK/AFFECTED): These dogs have two copies of the MLPH mutation associated with a diluted coat color which results in blue, charcoal, grey, lilac or champagne coat dependent on other coat color loci.
Coat Length/Fluffy Locus (LENGTH)
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Coat Length/Fluffy Locus (LENGTH)
The length of a dog’s coat can vary between breeds with some breeds typically showing short haired coats and other breeds showing long haired coats. It has been determined that hair length variation is due to a mutation in the FGF5 gene that changes the hair follicle growth termination signal which impacts canine hair length. The mutation is recessive which means a dog must have two copies of the mutation that will typically result in a long or fluffy coat.
Breeds
All breeds
Results
A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop long hair nor pass this mutation to their offspring.
B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this trait. They will not develop long hair and will, if bred, pass the mutation to 50% of its offspring, on average.
C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with long hair which results in a long-haired coat.
