Histological analysis of homozygous mab21l1-c.107delA p.(Lys36Argfs*7) ocular phenotypes. A-N. H&E stained transverse, A-L, and sagittal, M and N, sections of wild-type, A,C,E,G,I,J,M, and mab21l1c.107delA mutant, B,D,F,H,K,L,N, eyes at 3-dpf, A,B, 5-dpf, C,D, 14-dpf, E,F, 1-mpf, G,H, and adult (1–2 years), I-N, stages. No difference was observed at 3-dpf between wild-types and mab21l1c.107delA, A and B. Beginning at 5-dpf and continuing at 14-hpf and 1-mpf, corneal thinning was observed in mab21l1c.107delA fish (D,F,H; indicated by red arrows). At 14-dpf, both the dorsal and ventral annular ligaments appear underdeveloped (indicated by red arrowhead), the dorsal and ventral iris appear short (red arrowhead outlined in black) and abnormal vasculature is present in the posterior segment (red asterisk) in mab21l1c.107delA mutants, F. At 1-mpf, the dorsal annular ligament remains underdeveloped (H, red arrowhead). In adult mab21l1c.107delA fish, K,L,N, abnormal corneal epithelium (red arrow) and fibrotic masses (K,L, red asterisk) in the anterior chamber, as well as abnormal lens epithelium (L, red arrowhead), small degenerative lenses, K-N, and abnormal lens material (N; red asterisks) were observed. (l) lens; (c) cornea; (r) retina; (ac) anterior chamber); (ir) iridocorneal region; (al) annular ligament; (pc) posterior chamber; (on) optic nerve. O, Measurements for total corneal thickness normalized to eye diameter for 5-dpf wild-type and mutants. Statistical significance is indicated by asterisks (**P = .0048); error bars indicate SEM
|
