CPC C12N 15/87 (2013.01) [A01K 67/0275 (2013.01); A01K 2227/105 (2013.01)] | 28 Claims |
1. A non human animal mouse comprising in its genome a genetically modified endogenous Ttr locus, wherein a region of the endogenous Ttr locus comprising both Ttr coding sequence and non-coding sequence has been deleted and replaced with a corresponding human TTR sequence comprising both TTR coding sequence and non-coding sequence, and wherein the genetically modified endogenous Ttr locus comprises a mutation that causes a shift in beta-strand D of the encoded transthyretin protein,
wherein the mutation is a triple mutation corresponding to G53S/E54D/L55S in the human transthyretin protein when the encoded transthyretin protein is optimally aligned with the human transthyretin protein.
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