Edn3^tmgc48

This phenotypic mutant was identified in an ENU mutagenesis screen. ENU mutagenesis induced a G to A transition that resulted in an amino acid substitution of histidine for arginine at position 96 (R96H). This transistion disrupts the furin-mediated proteolytic cleavage of pro-endothelin necessary to form the biologically active protein. (J:137432)