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Coat Colour Dilution, dilution, MLPH-related
Breed: Frisian Pointing Dog
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Coat Colour Dilution, dilution, MLPH-related
OMIA
31
Gene Name
MLPH
Mutation
c.-22G>A
Mutation 2
c.705G>C
Mutation 3
g.48121642G>A
Mutation 4
g.48150787G>C
Mutation 5
p.Gln235His
Mutation 6
g.48150749_50insC
Mutation 7
c.667_668insC
Mutation Notes
p.(His223Profs*41)
Test Type
Other Genetic Traits
Details
Responsible for "dilute" pigmentation, and colour dilution-related alopecia (CDA). CDA causes patches of hair thinning or loss, and may also include flaky and/or itchy skin. The condition is most commonly seen in dogs with a "blue" or "fawn" coat. As some tests are breed or type specific, please use care when selecting the right test for your dog
Published
Drögemüller, C., Philipp, U., Haase, B., Günzel-Apel, A.R., Leeb, T. : A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered 98:468-73, 2007. Pubmed reference: 17519392. DOI: 10.1093/jhered/esm021.
Body/System/Process
Coat Colour/Pattern/Type
Inheritance
AR
Breed Specific Info
Researched Breeds
American Staffordshire terrier, Beagle, Doberman Pinscher, German Pinscher, Large Munsterlander, Miniature Pinscher, Rhodesian Ridgeback, Chow Chow, Sloughi, Thai Ridgeback, Chihuahua, Hungarian mudi, Hungarian pumi, Italian Greyhound, Pekingese, Shetland Sheepdog, Shih-Tzu, Tibetan Mastiff, Yorkshire Terrier
Breed-specific 1
American Staffordshire terrier, Beagle, Doberman Pinscher, German Pinscher, Large Munsterlander, Miniature Pinscher, Rhodesian Ridgeback
Breed-specific 1 Details
Specific mutations: g.48121642G>A; c.-22G>A. FROM: 2007 Drögemüller, C., Philipp, U., Haase, B., Günzel-Apel, A.R., Leeb, T. : A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered 98:468-73, 2007. Pubmed reference: 17519392. DOI: 10.1093/jhered/esm021.
Breed-specific 2
Chow Chow, Sloughi, Thai Ridgeback
Breed-specific 2 Details
g.48150787G>C c.705G>C; p.Gln235His. FROM: 2018 Bauer, A., Kehl, A., Jagannathan, V., Leeb, T. : A novel MLPH variant in dogs with coat colour dilution. Anim Genet 49:94-97, 2018. Pubmed reference: 29349785. DOI: 10.1111/age.12632.
Breed-specific 3
Chihuahua, Hungarian mudi, Hungarian pumi, Italian Greyhound, Pekingese, Shetland Sheepdog, Shih-Tzu, Tibetan Mastiff, Yorkshire Terrier
Breed-specific details 3
MLPH
