GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000588
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait
					
		
	
									Trait State in Taxon A
					
		
													Oryctolagus cuniculus
					
	
									Trait State in Taxon B
					
		
													Oryctolagus cuniculus
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			rabbit
					
	
									Synonyms
					
		
																			Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon A an Infraspecies?
					
		
																													No
					
	Taxon B
					
									Latin Name
					
		
	
									Common Name
					
		
																			rabbit
					
	
									Synonyms
					
		
																			Lepus cuniculus; rabbit; European rabbit; Japanese white rabbit; domestic rabbit; rabbits
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						nathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													No
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			MC1R
					
	
									Synonyms
					
		
																			CMM5; MSH-R; SHEP2; MSHR
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the G-protein coupled receptor 1 family.
					
	
							GO - Molecular Function
						
						
																														GO:0008528 : G protein-coupled peptide receptor activity
							
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							GO - Biological Process
						
						
																														GO:0007275 : multicellular organism development
							
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							GO - Cellular Component
						
						
																														GO:0005886 : plasma membrane
							
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									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Deletion Size
					
		
													1-9 bp
					
	
									Molecular Details of the Mutation
					
		
													6bp in-frame del of 94-95
					
	
									Experimental Evidence
					
		
	
				Authors
	
	
									Fontanesi L; Tazzoli M; Beretti F; Russo V
										
							Abstract
					
		
																			We sequenced almost the complete coding region of the MC1R gene in several domestic rabbits (Oryctolagus cuniculus) and identified four alleles: two wild-type alleles differing by two synonymous single nucleotide polymorphisms (c.333A>G;c.555T>C), one allele with a 30-nucleotide in-frame deletion (c.304_333del30) and one allele with a 6-nucleotide in-frame deletion (c.280_285del6). A polymerase chain reaction-based protocol was used to distinguish the wild-type alleles from the other two alleles in 263 rabbits belonging to 37 breeds or strains. All red/fawn/yellow rabbits were homozygous for the c.304_333del30 allele. This allele represents the recessive e allele at the extension locus identified through pioneering genetic studies in this species. All Californian, Checkered, Giant White and New Zealand White rabbits were homozygous for allele c.280_285del6, which was also observed in the heterozygous condition in a few other breeds. Black coat colour is part of the standard colour in Californian and Checkered breeds, in contrast to the two albino breeds, Giant White and New Zealand White. Following the nomenclature established for the rabbit extension locus, the c.280_285del6 allele, which is dominant over c.304_333del30, may be allele E(D) or allele E(S).
					
	
				Additional References
	
	
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