Figure 1
From: A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Generation of a novel Ids-P88L MPS II mouse model. (A) Sequence alignment of CXPXR motif in human LSD sulfatases. (B) 3D structure of human IDS wild-type (beige) and P86L (blue). Each prediction structure was calculated based on amino acid sequence of human IDS (UniProt P22304) by AlphaFold2 (https://colab.research.google.com/github/sokrypton/ColabFold/blob/main/AlphaFold2.ipynb). Superimposition of 3D structures were performed using ChimeraX software (https://www.cgl.ucsf.edu/chimerax/). (C) Structure of the mouse Ids genome. A replacement of Pro with Leu was induced by gRNA, as shown in the gray box. The PAM sequence was underlined. The CXPXR motif, an FGE target sequence, was marked using a bar. (D) Electropherogram of a BigDye-labeled PCR amplicon of the genome prepared from a wild-type (top, C) and mutant mouse (bottom, T). (E) Enzyme activity of IDS and other LSD enzymes in DBS. (F) Gross appearance of Ids-P88L MPS II mouse model. A shorten nasal bone length (upper) and a widen facial appearance (lower) of Ids-P88L MPS II mouse model was presented. A bar indicates 1Â cm. (F) Survival curve of a novel Ids-P88L MPS II mouse model.
