Donate
Coat Colour Dilution, dilution, MLPH-related
Breed: ALL
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
GTPs
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
OMIA Url
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
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
GTP Disease Synonym
Coat color dilution alopecia, Coat color mutant alopecia, Blue doberman syndrome, Black Hair Follicular Dysplasia, CDA
Gene Name
MLPH
Mutation
c.-22G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Drógem?ller, C., Philipp, U., Haase, B., G?nzel-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:
Inheritance
AR
FCI Number
-20
GTP Breed
ALL
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
D Locus (Dilute)
Gene Name
MLPH
Mutation
c.-22G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
D Locus (Dilute)
Gene Name
MLPH
Mutation
unpublished
Nature of test
mutation test
Inheritance
AR
FCI Number
-20
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
GTP Disease Synonym
Coat color dilution alopecia, Coat color mutant alopecia, Blue doberman syndrome, Black Hair Follicular Dysplasia, CDA
Gene Name
MLPH
Mutation
c.-22G>A
Nature of test
mutation test
Inheritance
AR
FCI Number
-20
GTP Breed
ALL
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
D Locus (Dilute)
Gene Name
MLPH
Mutation
unpublished
Nature of test
mutation test
Inheritance
AR
FCI Number
-20
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
Gene Name
MLPH
Mutation
c.-22G>A
GTP- or Breed-Specific Publications
Drógemuller, C., Philipp, U., Haase, B., Gunzel-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.
Application in the Breed
Test is only giving information to coat colors, not causal for alopecia for all breeds. D-Locus; D1 for all breeds, D2 for Chow Chow, Sloughi, Tai, Ridgeback Dog
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
GTP Disease Synonym
Alopecia
Gene Name
MLPH
Mutation
c.-22G>A
Mutation Comment
g.48121642G>A
Nature of test
mutation test
Inheritance
AR
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
GTP Disease Synonym
Coat color dilution alopecia, Coat color mutant alopecia, Blue doberman syndrome, Black Hair Follicular Dysplasia, CDA
Gene Name
MLPH
Mutation
c.-22G>A
Nature of test
mutation test
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-20
GTP Breed
ALL
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
GTP Disease Synonym
Coat Colour D-Locus Improved (MLPH)
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
D Locus (Dilute)
GTP Disease Synonym
Coat Colour D-Locus Improved (MLPH)
Gene Name
MLPH
Mutation
c.-22G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Alopecia, colour mutant
GTP Disease Synonym
Coat color dilution alopecia, Coat color mutant alopecia, Blue doberman syndrome, Black Hair Follicular Dysplasia, CDA
Gene Name
MLPH
Mutation
c.-22G>A
Nature of test
mutation test
Inheritance
AR
FCI Number
-20
GTP Breed
ALL
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
MLPH
Mutation
c.-22G>A; c.705G>C
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
