| Primary Identifier | MGI:3589247 | Allele Type | Chemically induced (ENU) |
| Gene | Edn3 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6-19<PWK> | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
