The detail information of Coat colour, dilution, MLPH-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2007

Species-specific name: Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 VanBuren,S.L.,Minor,K.M.,Grahn,R.A.,Mickelson,J.R.,Grahn,J.C.,Malvick,J.,Colangelo,J.R.,Mueller,E.,Kuehnlein,P.,Kehl,A.: :
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs. Genes (Basel) 11:, 2020.
Pubmed reference: 32531980 . DOI: 10.3390/genes11060639 .
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 .
2009 Perego,R.,Proverbio,D.,Roccabianca,P.,Spada,E.: :
Color dilution alopecia in a blue Doberman pinscher crossbreed. Can Vet J 50:511-4, 2009.
Pubmed reference: 19436637 .
2009 Welle,M.,Philipp,U.,Rüfenacht,S.,Roosje,P.,Scharfenstein,M.,Schuetz,E.,Brenig,B.,Linek,M.,Mecklenburg,L.,Grest,P.,Drögemüller,M.,Haase,B.,Leeb,T.,Drögemüller,C.: :
MLPH genotype melanin phenotype correlation in dilute dogs. Journal of Heredity 100:S75–S79, 2009.
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 .
2005 Kim,JH.,Kang,KI.,Sohn,HJ.,Woo,GH.,Jean,YH.,Hwang,EK.: :
Color-dilution alopecia in dogs. J Vet Sci 6:259-61, 2005.
Pubmed reference: 16131833 .
2005 Philipp,U.,Hamann,H.,Mecklenburg,L.,Nishino,S.,Mignot,E.,Gunzel-Apel,AR.,Schmutz,SM.,Leeb,T.: :
Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet 6:34, 2005.
Pubmed reference: 15960853 . DOI: 10.1186/1471-2156-6-34 .
2005 Philipp,U.,Quignon,P.,Scott,A.,Andre,C.,Breen,M.,Leeb,T.: :
Chromosomal Assignment of the Canine Melanophilin Gene (MLPH): A Candidate Gene for Coat Color Dilution in Pinschers. J Hered 96:774-6, 2005.
Pubmed reference: 15958794 . DOI: 10.1093/jhered/esi079 .
2002 Laffort-Dassot,C.,Beco,L.,Carlotti,D.N.: :
Follicular dysplasia in five Weimaraners Veterinary Dermatology 13:253-260, 2002.
Pubmed reference: 12358609 .
1999 Castellano,M.C.,Idiart,J.R.: :
Colour dilution alopecia in a German Shepherd dog Canine Practice 24:6-7, 1999.
1998 Rothstein,E.,Scott,D.W.,Miller,W.H.,Bagladi,M.S.: :
A retrospective study of dysplastic hair follicles and abnormal melanization in dogs with follicular dysplasia syndromes or endocrine skin disease Veterinary Dermatology 9:235-241, 1998.
1997 Madewell,B.R.,Ihrke,P.J.,Griffey,S.M.: :
Multiple skin tumours in a Doberman Pinscher with colour dilution alopecia Veterinary Dermatology 8:59-61, 1997.
1996 Beco,L.,Fontaine,J.,Gross,T.L.,Charlier,G.: :
Colour dilution alopecia in seven Dachshunds - a clinical study and the hereditary, microscopical and ultrastructural aspect of the disease Veterinary Dermatology 7:91-97, 1996.
1995 Lowenstein,C.: :
Color mutant alopecia in a yorkshire terrier [German] Kleintierpraxis 40:781 ff., 1995.
1995 Roperto,F.,Cerundolo,R.,Restucci,B.,Vincensi,M.R.,Decaprariis,D.,Devico,G.,Maiolino,P.: :
Colour dilution alopecia (cda) in ten yorkshire terriers Veterinary Dermatology 6:171-178, 1995.
1993 Finnie,J.W.,Tham,V.L.: :
Colour Mutant Alopecia in a Kelpie X Border Collie Dog Australian Veterinary Journal 70:388-389, 1993.
Pubmed reference: 8257319 .