GEPHE SUMMARY
	        	             Print
	        	    
	
									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00002310
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait
					
		
	
									Trait State in Taxon A
					
		
													WT
					
	
									Trait State in Taxon B
					
		
													Albino coat from various breeds sampled in Germany
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			domestic ferret
					
	
									Synonyms
					
		
																			Mustela furo; domestic ferret; black ferret; ferret; Mustela putorius furo Linnaeus, 1758; Mustela putoris furo
					
	
									Rank
					
		
																			subspecies
					
	
		Lineage
	
	
															
				Show more ... 
						teleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Mustela; Mustela putorius
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon A an Infraspecies?
					
		
																													No
					
	Taxon B
					
									Latin Name
					
		
	
									Common Name
					
		
																			domestic ferret
					
	
									Synonyms
					
		
																			Mustela furo; domestic ferret; black ferret; ferret; Mustela putorius furo Linnaeus, 1758; Mustela putoris furo
					
	
									Rank
					
		
																			subspecies
					
	
		Lineage
	
	
															
				Show more ... 
						teleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Mustelidae; Mustelinae; Mustela; Mustela putorius
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													Yes
					
	
							Taxon B Description
					
		
																				-
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			Tyr
					
	
									Synonyms
					
		
																			c; Oca1; skc35; albino
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the tyrosinase family.
					
	
							GO - Molecular Function
						
						
																														GO:0042803 : protein homodimerization activity
							
									 ... show more
										
																					
					
							GO - Biological Process
						
						
																														GO:0042438 : melanin biosynthetic process
							
									 ... show more
										
																					
					
							GO - Cellular Component
						
						
																														GO:0016021 : integral component of membrane
							
									 ... show more
										
																					
					
									UniProtKB
																							
Mus musculus
						
					Mus musculus
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Deletion Size
					
		
													-
					
	
									Molecular Details of the Mutation
					
		
													Deletion of exon 4 as detected by Southern Blot
					
	
									Experimental Evidence
					
		
	
				Main Reference
	
	
				Authors
	
	
									Blaszczyk WM; Distler C; Dekomien G; Arning L; Hoffmann KP; Epplen JT
										
							Abstract
					
		
																			Albinism is due to a lack of pigmentation in hair, skin and eye, and has been shown to occur in several animal species. Mutations of the tyrosinase (TYR) gene account for albinism in domestic cats, rabbits, cattle, mice and rats. In this study, we demonstrate that a TYR mutation accounts for albinism in the ferret (Mustela putorius furo). The coding sequence of the five exons of TYR was determined in genomic DNA from wild-type pigmented 'sable' coloured and albino ferrets. It was not possible to amplify TYR exon 4 in albino ferrets originating from different breeds. The deletion of exon 4 in albino ferrets was confirmed by Southern blot hybridization of genomic DNA from albino and pigmented ferrets. This is the first report of a deletion of a TYR exon in a non-human mammal.
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
					   		Related Genes
					
					
													No matches found.
											
				
								Related Haplotypes
					
					
													No matches found.
											
				
            EXTERNAL LINKS
        
    
            COMMENTS
        
	
					https://omia.org/OMIA000202/9669/ @Parallelism
				
			
            YOUR FEEDBACK is welcome!