Tg(SERPINA1*E366K)1Mlb

The transgenic construct contains the entire mutant human SERPINA1 gene under its endogenous promoters (both hepatocyte and macrophage) including a glutamic acid to lysine substitution at residue 366 (E366K, also designated E342K; G to A) plus 5 kB of the 5' and 3 kb of the 3' flanking genomic DNA sequences. Founder 1 carries 5-6 copies of the transgene. The nomenclature differences are accounted for by the fact that the mature protein following cleavage of the 24 amino acid signal peptide at N terminus is not comparable to the gene sequence. In the whole coding area, 366 is the location of the G to A mutation associated with the Z allele. In the mature protein the sample amino acid is 342. (J:329417)