Generic Phene Data
Breeds
General
Disease Name
Coat Colour Dilution, Alopecia
Disease Name 2
Coat Colour D-Locus Improved (MLPH)
OMIA
31
Gene Name
MLPH
Mutation
c.-22G>A
Mutation 2
c.705G>C
OMIM
609227
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 Data
Genomia s.r.o
Link to GTP
GTP
Breed
GTP Disease Name
Alopecia, colour mutant
Gene Name
MLPH
Mutation
c.-22G>A
Nature of test
mutation test
Inheritance
AR
Genoscoper Laboratories Oy
Link to GTP
Breed
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
