Hps4
Coloration (albinism)
Coding,
Deletion
N
Ictalurus punctatus
channel catfish - (species) D
Intraspecific
Association Mapping
Li Y; Geng X; Bao L ; et al. (2017)
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in [...]
GP00002122
Hps4
Q99KG7
Morphology
A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene N
Ictalurus punctatus
channel catfish - (species)
Ictalurus punctatus
channel catfish - (species) D
Hps4
Ictalurus punctatus
channel catfish - (species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000567
MC1R
Q01726
Morphology
2bp deletion resulting in frameshift N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000568
MC1R
Q01726
Morphology
Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000745
Oca2
Q62052
Morphology
Physiology
Deletion of exon 21 N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000746
Oca2
Q62052
Morphology
Physiology
Almost complete deletion of exon 24; + 2 a.a subsitutions at conserved positions - the two point mutations do not drastically affect the function of OCA2 in cell lines suggesting that the exon 24 deletion is the mutation that causes albinism in the Pachón population N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Pantherophis guttatus
(species) D
Intraspecific
Linkage Mapping
Saenko SV; Lamichhaney S; Martinez Barrio A ; et al. (2015)
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 g[...]
GP00001619
OCA2
Q04671
Morphology
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons N
Pantherophis guttatus
(species)
Pantherophis guttatus
(species) D
Oca2
Pantherophis guttatus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Melanochromis auratus
(species) D
Intraspecific
Candidate Gene
Kratochwil CF; Urban S; Meyer A (2019)
Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an ame[...]
GP00001955
Oca2
Q62052
Morphology
deletion covering a total of 5.4kb including exon 2 and parts of the flanking introns 1 and 2 N
Melanochromis auratus
(species)
Melanochromis auratus
(species) D
Oca2
Melanochromis auratus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002351
Oca2
Q62052
Morphology
1-bp insert creating a frameshift and a truncated protein (470 amino acids instead of 805). In oca2L ohnolog on chromosome LG6. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002352
Oca2
Q62052
Morphology
1-bp deletion creating a frameshift and a truncated protein (519 amino acids instead of 805). In oca2S ohnolog on chromosome LG31. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Coding,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Linkage Mapping
Fukamachi S; Shimada A; Shima A (2001)
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
GP00002286
SLC45A2
Q9UMX9
Morphology
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Cis-regulatory,
Complex Change
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Fukamachi S; Kinoshita M; Tsujimura T ; et al. (2008)
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter.
GP00002287
SLC45A2
Q9UMX9
Morphology
Promoter complex change resulting in loss of expression : an inversion of 167 bp ; an insertion of 48 bp ; and a deletion of 172 bp
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (albinism)
Coding,
SNP
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002357
Tyr
P11344
Morphology; Physiology
G420R amino acid change which is identical to one identified in Caucasian human patients (G419R) http://www.ifpcs.org/albinism/oca1mut.html N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
tyrosinase (TYR)
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator