Title Page
Summary
Contents
Introduction 9
Materials and Methods 10
Results 14
Discussion 24
Reference 26
국문 요약 28
Figure 1. Design process for producing a humanized IMPDH1-R316P mouse model with a mutation (IMPDH1-R316P) in which R316 amino acids are changed to proline (P) in human... 16
Figure 2. Sequencing results of the IMPDH1-R316P mutant mouse manufactured using CRISPR-Cas9. 17
Figure 3. In vivo retinal morphologic changes associated with the IMPDH1 mutation. 20
Figure 4. Electroretinogram (ERG) of mice with the IMPDH1 mutation. Representative ERG data showing the amplitudes of both photopic and scotopic responses. 21
Figure 5. Histologic sections of wild-type, IMPDH1 mutation heterozygote, and IMPDH1 mutation homozygote mouse at 2 weeks and 7 months postnatal age (H&E and... 22
Figure 6. TUNEL staining of wild-type rats and IMPDH1 mutation mouse at each genotype. TUNEL-positive cells fluoresced yellow-green. Scale bars: 50 µm. 23