Lepr^Db-2Btlr

The mutation corresponds to a T-to-A transversion at nucleotide position 1413 of the gene, in the ninth of 18 exons. It replaces codon 471, specifying cysteine, with a stop codon (C471Ter), which results in truncation of the protein by 691 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:133633)