Primary Identifier | MGI:3777840 | Allele Type | Chemically induced (ENU) |
Gene | Tyr | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false | Project Collection | Beutler Mutagenetix |
molecularNote | The mutation is an A-to-G transition at coding nucleotide 1088, in the third of 5 exons, that replaces histidine with arginine at amino acid position 363 (p.H363R) of the protein. This highly conserved histidine is one of three copper-binding histidines in the second copper-binding domain (CuB) of the protein and is essential for its enzymatic activity. |