Gephebase

Gephebase Search Results

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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Your research retrieved 14 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
Microphtalmia-associated transcription factor	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Fontanesi L; Scotti E; Russo V (2012) Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmen[...] 2 Additional References Hayes BJ; Pryce J; Chamberlain AJ (2010) Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat per[...] Jivanji S; Worth G; Lopdell TJ (2019) Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in c[...]	GP00000656	Mitf Q08874	Morphology	unknown but association with intronic variant	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Microphtalmia-associated transcription factor	Bos taurus cattle - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Cis-regulatory, Deletion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Karlsson EK; Baranowska I; Wade CM ; et al. (2007) Efficient mapping of mendelian traits in dogs through genome-wide association. 1 Additional References Baranowska Körberg I; Sundström E; Meadows JR (2014) A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.	GP00000657	Mitf Q08874	Morphology	g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	Microphtalmia-associated transcription factor	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Cis-regulatory, Insertion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Haase B; Blatter M ; et al. (2012) Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.	GP00000658	Mitf Q08874	Morphology	11bp insertion in melanocyte-specific promoter; disrupting PAX3 binding site	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Haase B; Blatter M ; et al. (2012) Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.	GP00000659	Mitf Q08874	Morphology	c.629A>G N310S yielding defective DNA-binding	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (feathers)	Coding, Deletion N	Coturnix japonica Japanese quail - (species) D	Domesticated	Candidate Gene	Minvielle F; Bed'hom B; Coville JL ; et al. (2010) The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with [...] 1 Additional References Mochii M; Ono T; Matsubara Y (1998) Spontaneous transdifferentiation of quail pigmented epithelial cell is accompanied by a mutation in [...]	GP00000660	Mitf Q08874	Morphology	2bp deletion N	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species) D	Microphtalmia-associated transcription factor	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (feathers)	Cis-regulatory, Insertion	Anas platyrhynchos mallard - (species) D	Domesticated	Linkage Mapping	Zhou Z; Li M; Cheng H ; et al. (2018) An intercross population study reveals genes associated with body size and plumage color in ducks.	GP00002127	Mitf Q08874	Morphology	6.6kb insertion between exon 1M and exon 2, leads to lower expression of isoform MITF M in pekin white ducks	Anas platyrhynchos mallard - (species)	Anas platyrhynchos mallard - (species) D	Microphtalmia-associated transcription factor	Anas platyrhynchos mallard - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Haase B; Blatter M ; et al. (2012) Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.	GP00002322	Mitf Q08874	Morphology	c.519_523delGTGTC p.C174Sfs*20 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Dürig N; Jude R; Jagannathan V ; et al. (2017) A novel MITF variant in a white American Standardbred foal.	GP00002323	Mitf Q08874	Morphology	c.731G>A p.G244E	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Henkel J; Lafayette C; Brooks SA ; et al. (2019) Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat [...]	GP00002324	Mitf Q08874	Morphology	~63-kb deletion spanning exons 6-9 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Magdesian KG; Tanaka J; Bellone RR (2020) A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.	GP00002325	Mitf Q08874	Morphology	8.7 kb deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Microphtalmia-associated transcription factor	Equus caballus horse - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Hofstetter S; Seefried F; Häfliger IM ; et al. (2019) A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted c[...]	GP00002326	Mitf Q08874	Morphology	unknown based SNP association	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Microphtalmia-associated transcription factor	Bos taurus cattle - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP N	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015) Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]	GP00002327	Mitf Q08874	Morphology	c.328C>T p.R110* N	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D	Microphtalmia-associated transcription factor	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Coding, SNP N	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015) Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]	GP00002328	Mitf Q08874	Morphology	donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF N	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D	Microphtalmia-associated transcription factor	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
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