Fig. 3: Generation of a mouse model expressing a protein analogous to the human mutant variant.
From: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
a Diagram depicting the human GPATCH11 gene and the murine Gpatch11 gene. The schematic illustrates a CRISPR/Cas9-mediated exon 5 deletion from the mouse Gpatch11 locus (human exon 4 corresponds to murine exon 5). b Representative chromatogram displaying wild-type (WT) and homozygous mutant (Gpatch11Δ5/Δ5) mice cDNA sequences amplified from retina samples using forward and reverse primers in exons 3, and 8, respectively. c Detection and (d) quantification of GPATCH11 wild-type and homozygous mutant isoforms relative to γ-Tubulin by Western blot analysis of retina protein extracts. The significance of variations among samples was estimated using the Two-tailed Student’s t-test. Bars indicate means ± SEM calculated from ≤6 mice per genotype. n.s. not significant. Source data are provided as a Source Data file.
