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 12 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
Agouti (ASIP)	Coloration (coat)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Forestier L; Allain D ; et al. (2010) Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...] 1 Additional References Sakuma Y; Matsunami M; Takada T (2019) Multiple Conserved Elements Structuring Inverted Repeats in the Mammalian Coat Color-Related Gene As[...]	GP00001968	Asip Q03288	Morphology	an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat; dorso-ventral)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Letko A; Ammann B; Jagannathan V ; et al. (2020) A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]	GP00002373	Asip Q03288	Morphology	"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (yellow fat)	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Strychalski J; Brym P; Czarnik U ; et al. (2015) A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.	GP00002152	BCO2 Q9BYV7	Physiology	AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	BCO2 = beta-carotene oxygenase 2	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
HMGA2	Body size (dwarfism) Cranio-facial morphology	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Association Mapping	Carneiro M; Hu D; Archer J ; et al. (2017) Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]	GP00001675	HMGA2 P52926	Morphology Morphology	deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	HMGA2	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
LIPH	Hair length	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Linkage Mapping	Diribarne M; Mata X; Chantry-Darmon C ; et al. (2011) A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Ory[...]	GP00000550	Liph Q8CIV3	Morphology	1bp deletion resulting in frameshift N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	LIPH	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000588	MC1R Q01726	Morphology	6bp in-frame del of 94-95	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000589	MC1R Q01726	Morphology	30bp in-frame del of 102-111	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Scotti E; Colombo M ; et al. (2010) A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]	GP00000590	MC1R Q01726	Morphology	6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	MC1R	Oryctolagus cuniculus rabbit - (species)	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
RORB	gait (saltatorial locomotion)	Coding, SNP	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Association Mapping	Carneiro M; Vieillard J; Andrade P ; et al. (2021) A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.	GP00002343	RORB F1PET8	Behavior	a change from GT to AT in the 5’ donor site of intron 9 (chr1: 61,103,503bp). The mutation disrupts the normal splicing of RORB.	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	RORB	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Aigner B; Besenfelder U; Müller M ; et al. (2000) Tyrosinase gene variants in different rabbit strains.	GP00002316	Tyr P11344	Morphology	c.1118C>A p.T373K (also causes albinism in humans)	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	tyrosinase (TYR)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Linkage Mapping	Utzeri VJ; Ribani A; Fontanesi L (2014) A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit[...]	GP00002240	Tyrp1 P07147	Morphology	c.570G>A p.Trp190ter N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	tyrosinase-related protein 1 (TYRP1)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator