Gephebase

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This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Select All	Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Main Curator	Edit Gene-GePhe	Taxon B	Other Curators	Status	Validator Comment	Date of Sent Email
	Microphtalmia-associated transcription factor a (MITFA)	Coloration (amelanism)	Cis-regulatory, Deletion	Betta splendens Siamese fighting fish - (species) D	Domesticated	Linkage Mapping	Wang L; Sun F; Wan ZY ; et al. (2021) Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.	GP00002379	Q6P0E9NULL	Morphology	"Comparison between homozygous albino and wild-type pigmented fish revealed a cluster of indels and SNPs about 25 kb upstream of mitfa, including a 366-bp deletion in the albino mutant. Genotyping this deletion in ∼1,000 fish revealed that this deletion was strictly correlated with the albino phenotype (supplementary fig. S14 and table S9, Supplementary Material online). These data suggest that the 366-bp deletion is a distant cis-regulatory element and could underlie the albino phenotype."	Betta splendens Siamese fighting fish - (species)	Betta splendens Siamese fighting fish - (species) D		Microphtalmia-associated transcription factor a (MITFA)	Betta splendens Siamese fighting fish - (species)		Published - Accepted by Curator
	tyrosinase (TYR)	Coloration (amelanism)	Coding, Insertion N	Oryzias latipes Japanese medaka - (species) D	Domesticated	Candidate Gene	Koga A; Hori H (1997) Albinism due to transposable element insertion in fish.	GP00002372	Tyr P11344	Morphology	"i4 allele was found to contain a 4.7- kb transposable element in the 5th exon" "Tyr-i4 contains a 4.7-kb insertion in exon 5 (Fig. 3). If the inserted fragment was transcribed, the amino acid sequence would be altered after the 469th residue, with a termination codon (UAG) at amino acid position 471. The i4/i4 genotype exhibits a quasi-albino phenotype. This may be explained by generation of a tyrosinase protein that only lacks its C-terminus region. The wild-type tyrosinase has a highly hydrophobic amino acid block at its C terminus (aa 480 - aa 500) which is thought to be part of a membrane spanning domain (Inagaki et al., 1994). A possible explanation is that the mutant tyrosinase encoded by Tyr- i4 lacks this region, so that it cannot be positioned properly on the membrane" N	Oryzias latipes Japanese medaka - (species)	Oryzias latipes Japanese medaka - (species) D		tyrosinase (TYR)	Oryzias latipes Japanese medaka - (species)		Published - Accepted by Curator