Description:
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 phaeomelanin pigments, so black, brown and yellow dogs are all affected by the dilution. However, this effect is more pronounced in black dogs. A dilute black (BB or Bb) dog is generally known as blue, though names do vary for different breeds, such as charcoal or grey. A diluted chocolate (bb) dog is often referred to as a lilac and a diluted yellow (ee) is known as a champagne.
Because the mutation responsible for the dilution phenotype is recessive, a dog can be a carrier of the dilution gene and still appear to have a normal coat color. These dogs can pass on either the full-colored or dilute allele to any offspring. This means that two dogs that appear full-colored can have a dilute puppy. This makes DNA testing for the D-Locus an important breeding tool, whether breeding for a dilute coat, or to avoid it.
This mutation affects both eumelanin and phaeomelanin pigments, so black, brown and yellow dogs are all affected by the dilution. However, this effect is more pronounced in black dogs. A dilute black (BB or Bb) dog is generally known as blue, though names do vary for different breeds, such as charcoal or grey. A diluted chocolate (bb) dog is often referred to as a lilac and a diluted yellow (ee) is known as a champagne.
Because the mutation responsible for the dilution phenotype is recessive, a dog can be a carrier of the dilution gene and still appear to have a normal coat color. These dogs can pass on either the full-colored or dilute allele to any offspring. This means that two dogs that appear full-colored can have a dilute puppy. This makes DNA testing for the D-Locus an important breeding tool, whether breeding for a dilute coat, or to avoid it.
Results by DNA testing:
Dogs can be DNA tested at ANY age.
D/D:
Non-diluteThe dog carries two copies of the dominant "D" allele. The dog will express a normal, non-dilute coat color and will always pass on a copy of the "D" allele to all offspring.
D/d:
Carrier of diluteBoth the dominant and recessive alleles detected. The dog will have a normal, non-dilute coat and is a carrier of the dilute coat color. The dog can pass either allele on to any offspring.
d/d:
DiluteThe dog has two copies of the recessive "d" allele and will have a dilute colored coat. He will always pass on a copy of the dilute allele on to any offspring.
Dogs can be DNA tested at ANY age.
D/D:
Non-diluteThe dog carries two copies of the dominant "D" allele. The dog will express a normal, non-dilute coat color and will always pass on a copy of the "D" allele to all offspring.
D/d:
Carrier of diluteBoth the dominant and recessive alleles detected. The dog will have a normal, non-dilute coat and is a carrier of the dilute coat color. The dog can pass either allele on to any offspring.
d/d:
DiluteThe dog has two copies of the recessive "d" allele and will have a dilute colored coat. He will always pass on a copy of the dilute allele on to any offspring.