Lepr^Db-Btlr

The mutation corresponds to a T-to-A transversion at nucleotide position 999 of the gene, in the seventh of 18 exons. It causes replacement of codon 333, specifying tryptophan, by a stop codon (W333Ter), which results in truncation of the protein by 829 amino acids and loss of the C-terminal intracellular signaling domain, the transmembrane domain, and most of the extracellular region including the ligand-binding domain. (J:133632)