Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Li W; Sartelet A; Tamma N ; et al. (2016)
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melan[...]
GP00000642
Mlph
Q91V27
Morphology
10bp deletion in exon1 ; c.87_96del p.Glu32Aspfs*1 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Melanophilin (MLPH)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Bauer A; Kehl A; Jagannathan V ; et al. (2018)
A novel MLPH variant in dogs with coat colour dilution.
GP00000643
Mlph
Q91V27
Morphology
c.705G>C p.Gln235His
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Ishida Y; David VA; Eizirik E ; et al. (2006)
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat[...]
GP00000644
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift c.83delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Melanophilin (MLPH)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Vaez M; Follett SA; Bed'hom B ; et al. (2008)
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phe[...]
GP00000645
Mlph
Q91V27
Morphology
c.103C>T p.R35W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Melanophilin (MLPH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
GP00000646
Mlph
Q91V27
Morphology
deletion including intron 7 and exon 8 N
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
1 Additional References
GP00000647
Mlph
Q91V27
Morphology
Splice donor site variation in exon 8 resulting in a premature stop codon c.901+1G>A
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Allain D ; et al. (2014)
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus [...]
GP00000648
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift N
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00000649
Mlph
Q91V27
Morphology
c.111-5C>A (exon skipping resulting in frameshift and truncated protein)
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (feathers)
Unknown,
Complex Change
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Minvielle F; Cecchi T; Passamonti P ; et al. (2009)
Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison.
1 Additional References
GP00000650
Mlph
Q91V27
Morphology
Large deletions and rearrangement with pseudogenization of MLPH and loss of two other genes
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
Melanophilin (MLPH)
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Drögemüller C; Philipp U; Haase B ; et al. (2007)
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal[...]
GP00002330
Mlph
Q91V27
Morphology
GA substitution at splice donor site causing Splicing defect
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Van Buren SL; Minor KM; Grahn RA ; et al. (2020)
A Third MLPH Variant Causing Coat Color Dilution in Dogs.
GP00002331
Mlph
Q91V27
Morphology
c.667_668insC p.(His223Profs*41) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00002332
Mlph
Q91V27
Morphology
c.585delG p.L195LfsX123* N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Melanophilin (MLPH)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator