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
PMEL17	Coloration (feathers)	Coding, Deletion	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Kerje S; Sharma P; Gunnarsson U ; et al. (2004) The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]	GP00000911	PMEL Q98917	Morphology	deletion of amino acids 731-735	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	PMEL17	Gallus gallus chicken - (species)	Published - Accepted by Curator
PMEL17	Coloration (feathers)	Coding, Deletion	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Kerje S; Sharma P; Gunnarsson U ; et al. (2004) The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]	GP00000912	PMEL Q98917	Morphology	deletion of amino acids 280-284	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	PMEL17	Gallus gallus chicken - (species)	Published - Accepted by Curator
PMEL17	Coloration (feathers)	Coding, Insertion	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Kerje S; Sharma P; Gunnarsson U ; et al. (2004) The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]	GP00000913	PMEL Q98917	Morphology	insertion of amino acid 723-725 due to a 9bp-insert in exon 10	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	PMEL17	Gallus gallus chicken - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, Deletion	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001365	PMEL P40967	Morphology	c.50_52del p.Leu18del in signal peptide	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D	PMEL17	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Gutiérrez-Gil B; Wiener P; Williams JL (2007) Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-B[...]	GP00002027	PMEL Q06154	Morphology	g.57669926G>A c.64G>A p.Gly22Arg	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PMEL17	Bos taurus cattle - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, Deletion	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Jolly RD; Wills JL; Kenny JE ; et al. (2008) Coat-colour dilution and hypotrichosis in Hereford crossbred calves.	GP00002028	PMEL Q06154	Morphology	3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del	Bos taurus cattle - (species)	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	PMEL17	Bos taurus cattle - (species) Bos grunniens domestic yak - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Clark LA; Wahl JM; Rees CA ; et al. (2006) Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.	GP00002072	Pmel Q60696	Morphology	due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, Insertion	Mus musculus house mouse - (species) D	Domesticated	Linkage Mapping	Kwon BS; Halaban R; Ponnazhagan S ; et al. (1995) Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pme[...]	GP00002101	Pmel Q60696	Morphology	single nucleotide (A) insertion in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal is created downstream from the wild-type reading frame. The silver pmel 17 protein has a major defect at the carboxyl terminus.	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	PMEL17	Mus musculus house mouse - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002266	Pmel Q60696	Morphology	Allele of the Merle SINE insertaiion : Mc (208-230bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002267	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Mc+ (231-245bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002268	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Ma (247-254bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002269	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Ma+ (255-264bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Langevin M; Synkova H; Jancuskova T ; et al. (2018) Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh. 1 Additional References Varga L; Lénárt X; Zenke P (2020) Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.	GP00002270	Pmel Q60696	Morphology	Allele of the Merle SINE insertion : Mh (269-277bp)	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	PMEL17	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Brunberg E; Andersson L; Cothran G ; et al. (2006) A missense mutation in PMEL17 is associated with the Silver coat color in the horse. 4 Additional References Reissmann M; Bierwolf J; Brockmann GA (2007) Two SNPs in the SILV gene are associated with silver coat colour in ponies. Bellone RR (2010) Pleiotropic effects of pigmentation genes in horses. Watt B; Tenza D; Lemmon MA (2011) Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathog[...] Andersson LS; Wilbe M; Viluma A (2013) Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effec[...]	GP00002271	Pmel Q60696	Morphology	g.73665304C>T p.R625C	Equus caballus horse - (species)	Equus caballus horse - (species) D	PMEL17	Equus caballus horse - (species)	Published - Accepted by Curator