Edn3^tmgc48
Chemically induced Allele Detail

Summary

• Symbol: Edn3^tmgc48
• Name: endothelin 3; Tennessee Mouse Genome Consortium 48
• MGI ID: MGI:3589247
• Synonyms: 114CH19, 114-CH19
• Gene: Edn3 Location: Chr2:174602412-174625835 bp, + strand Genetic Position: Chr2, 98.1 cM
• Alliance: Edn3^tmgc48 page

Mutation origin

• Strain of Origin: C57BL/6-19^PWK

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Edn3 Mutation: 23 strains or lines available

References

• Original: J:92490 The Tennessee Mouse Genome Consortium, Targeted mutagenesis of the mouse genome and neural phenotypes. MGI Direct Data Submission. 2004-6
• All: 2 reference(s)