Fig 1: Generation of the FXNI151F model. A Alignment of the C-terminal region from human (Hu, Uniprot Q16595) and mouse (Ms, Uniprot O35943) frataxin protein sequences. Amino acid I151 in mice corresponds to I154 in humans (boxed). B ribbon representation of human frataxin (pdb code 3s4m) showing the position of I154 (spacefill, in violet). Ribbons are colored according to sequence, from dark blue (N-terminal) to red (C-terminal). Molecular graphics were performed with the UCSF Chimera package. C DNA sequence analyses of WT, HET, and FXNI151F mice. The top panel shows a schematic diagram of the Fxn Gene. The amplified sequence used in genotyping assays includes exon 4 and is indicated. The region containing the mutations is highlighted and shown below. Dashed boxes indicate the ACC ? ACT (silent) and ATC ? TTC (I151F) mutations introduced by gene editing into the frataxin gene. D Genotyping of litters from HET intercrosses
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