Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Incompletely Dominant
Considered a defect: yes
Year key mutation first reported: 2006
Species-specific name: This is the classic M (Merle) locus (Little, 1957)
Species-specific symbol: M locus
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB216 | Shetland Shepherd Dog | 33-40.6 cm | 6.8-11.3 kg | United Kingdom (Scotland) |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
PMEL | premelanosome protein | Canis lupus familiaris | Chr10 : 334246 - 299404 | Homologene, Ensembl, NCBI gene |
2020 |
Varga,L.,Lénárt,X.,Zenke,P.,Orbán,L.,Hudák,P.,Ninausz,N.,Pelles,Z.,Szőke,A.: :
Being Merle: The Molecular Genetic Background of the Canine Merle Mutation. Genes (Basel) 11:, 2020. Pubmed reference: 32560567 . DOI: 10.3390/genes11060660 . |
2019 |
Pelles,Z.,Gáspárdy,A.,Zöldág,L.,Lénárt,X.,Ninausz,N.,Varga,L.,Zenke,P.: :
Merle allele variations in the Mudi dog breed and their effects on phenotypes. Acta Vet Hung 67:159-173, 2019. Pubmed reference: 31238727 . DOI: 10.1556/004.2019.018 . |
2018 |
Ballif,B.C.,Ramirez,C.J.,Carl,C.R.,Sundin,K.,Krug,M.,Zahand,A.,Shaffer,L.G.,Flores-Smith,H.: :
The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds. Cytogenet Genome Res :, 2018. Pubmed reference: 30071510 . DOI: 10.1159/000491408 . |
2018 |
Langevin,M.: :
Merle - SINE Insertion from Mc Mh; The Incredible Story of Merle Privately published https://www.merle-sine-insertion-from-mc-mh.com/order/ :, 2018. |
2018 |
Langevin,M.,Synkova,H.,Jancuskova,T.,Pekova,S.: :
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. PLoS One 13:e0198536, 2018. Pubmed reference: 30235206 . DOI: 10.1371/journal.pone.0198536 . |
2018 |
Murphy,S.C.,Evans,J.M.,Tsai,K.L.,Clark,L.A.: :
PMEL: correlating genotype with phenotype. Mob DNA 9:26, 2018. Pubmed reference: 30123327 . DOI: 10.1186/s13100-018-0131-6 . |
2016 |
Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721 . DOI: 10.1016/j.tvjl.2016.05.004 . |
2011 |
Imamoto,S.,Watanabe,M.,Iba,M.,Imamoto,M.,Umeyama,K.: :
A mixed-breed dog showing the same gene modification as in a Miniature Dachshund Journal of Animal Clinical Medicine 20:1-5, 2011. DOI: 10.11252/dobutsurinshoigaku.20.1 . |
2010 |
Imamoto,S.,Imamoto,M.,Watanabe,M.,Umeyama,K.: :
Study on the effect SINE insertion to an SILV (Pmel17) gene on the fundi of longhaired miniature dachshunds Journal of Veterinary Medicine (Japan) 63:385-390, 2010. |
2009 |
Strain,GM.,Clark,LA.,Wahl,JM.,Turner,AE.,Murphy,KE.: :
Prevalence of deafness in dogs heterozygous or homozygous for the merle allele. J Vet Intern Med 23:282-6, 2009. Pubmed reference: 19192156 . DOI: 10.1111/j.1939-1676.2008.0257.x . |
2006 |
Clark,LA.,Wahl,JM.,Rees,CA.,Murphy,KE.: :
From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A 103:1376-81, 2006. Pubmed reference: 16407134 . DOI: 10.1073/pnas.0506940103 . |
2006 |
Hedan,B.,Corre,S.,Hitte,C.,Dreano,S.,Vilboux,T.,Derrien,T.,Denis,B.,Galibert,F.,Galibert,MD.,Andre,C.: :
Coat colour in dogs: identification of the merle locus in the Australian shepherd breed. BMC Vet Res 2:9, 2006. Pubmed reference: 16504149 . DOI: 10.1186/1746-6148-2-9 . |
2006 |
Platt,S.,Freeman,J.,diStefani,A.,Wieczorek,L.,Henley,W.: :
Prevalence of unilateral and bilateral deafness in border collies and association with phenotype. J Vet Intern Med 20:1355-62, 2006. Pubmed reference: 17186850 . |
2003 |
Schmutz,SM.,Berryere,TG.,Sharp,CA.: :
KITLG maps to canine chromosome 15 and is excluded as a candidate gene for merle in dogs. Anim Genet 34:75-6, 2003. Pubmed reference: 12580795 . |
1988 |
Herrman,A.,Wegner,W.: :
[Eye lesions in aging merle Dachshunds with particular reference to iris atrophy] Praktische Tierarzt 69:33-36, 1988. |
1986 |
Klinckmann,G.,Koniszewski,G.,Wegner,W.: :
Light-microscope investigations on the retinae of dogs carrying the Merle factor Journal of Veterinary Medicine. Series A 33:674-788, 1986. Pubmed reference: 3099512 . |
1985 |
Sponenberg,D.P.: :
Inheritance of the harlequin color in Great Dane dogs Journal of Heredity 76:224-225, 1985. Pubmed reference: 3998446 . |
1985 |
Sponenberg,D.P.,Lamoreaux,M.L.: :
Inheritance of tweed, a modification of merle, in Australian shepherd dogs Journal of Heredity 76:303-304, 1985. Pubmed reference: 4031467 . |
1984 |
Sponenberg,D.P.: :
Germline reversion of the merle allele in Australian shepherd dogs Journal of Heredity 75:78 only, 1984. Pubmed reference: 6323572 . |
1983 |
Akcan,A.,Wegner,W.: :
[Changes in the visual pathways and visual centers in Merle syndrome in the dog]. Z Versuchstierkd 25:91-9, 1983. Pubmed reference: 6410614 . |
1982 |
WhitneyIII,J.B.,Lamoreux,M.L.: :
Transposable elements controlling genetic instabilities in mammals. Journal of Heredity 73:12-18, 1982. |
1980 |
Flach,M.,Dausch,D.,Wegner,W.: :
[Fluorescence angiography in the dachshund. Further findings in Merle syndrome of the dog]. Tierarztl Prax 8:375-83, 1980. Pubmed reference: 6817463 . |
1980 |
Wegner,W.,Akcan,A.: :
[Effects of Merle factor on the optic area in the dog]. Dtsch Tierarztl Wochenschr 87:342, 1980. Pubmed reference: 7006993 . |
1978 |
Dausch,D.,Wegner,W.,Michaelis,W.,Reetz,I.: :
[Eye changes in the merle syndrome in the dog (author's transl)]. Albrecht Von Graefes Arch Klin Exp Ophthalmol 206:135-50, 1978. Pubmed reference: 418699 . |
1977 |
Dausch,D.,Wegner,W.,Michaelis,M.,Reetz,I.: :
[Ophthalmological findings in Merle dachshunds]. Dtsch Tierarztl Wochenschr 84:468-75, 1977. Pubmed reference: 340189 . |
1977 |
Reetz,I.,Stecker,M.,Wegner,W.: :
Audiometric findings in Dachshunds (merle gene carriers) Deutsche Tierarztliche Wochenschrift 84:273-277, 1977. Pubmed reference: 330141 . |
1957 |
Little,C.C.: :
The Inheritance of Coat Color in Dogs Comstock Publishing Associates, Cornell University Press, Ithaca, NY :, 1957. |
1954 |
Sorsby,A.,Davey,J.B.: :
Ocular associations of dappling (or merling) in the coat colour of dogs. I. Clinical and genetical data Journal of Genetics 52:425-440, 1954. |
1953 |
Ford,L.: :
Defective Collie dogs with heterozygous merling Journal of Canine Genetics :24-28, 1953. |
1935 |
Mitchell,A.L.: :
Dominant dilution and other colour factors in Collie dogs Journal of Heredity 26:424-430, 1935. |