FIGURE

Fig. 7

ID
ZDB-FIG-221109-18
Publication
Chrystal et al., 2022 - The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
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Fig. 7

Zebrafish cfap20−/− mutants model early-onset, progressive retinal dystrophy.

a The larval, 7 days post-fertilisation, cfap20−/− homozygote retina is indistinguishable from wildtype (WT) animals (green bracket = rod and blue/red/green cone OS and RPE, white arrowhead = UV cone OS). By 1.5 months post-fertilisation (mpf) the homozygote retina is degenerate with loss of organised cone subtype layers (green bracket = rod OS and RPE, white arrowhead = UV cone OS, black arrowhead = blue/red/green cone OS) and poorly defined OPL (asterisk). b, c By 4 mpf, the cone mosaic is lost in homozygotes and hyperreflective blebs (arrows) are observed in the outer retina (Optical Coherent Tomography B-scans (cross section) and en face projections). The photoreceptor and OPLs are thinner in homozygotes (n = 5; error bars = SEM; two-tailed unpaired Mann-Whitney, pR P = 0.0079, OPL P = 0.0238). Representative full-field electroretinogram traces from 4 mpf dark (DA) or light adapted (LA) animals presented in d. e At both ages, the DA b-wave is reduced in homozygotes (two-tailed unpaired T-tests; 1.5 mpf: n = 8 WT, 4 cfap20−/−; P = 0.0382; 4 mpf n = 19 WT, 7 cfap20−/−; P = 0.0017) whereas the LA b-wave is reduced only at 4 mpf (two-tailed unpaired T-tests; 1.5 mpf: n = 14 WT, 4 cfap20−/−; P = 0.6010; 4 mpf: n = 20 WT, 7 cfap20/−; P = 5.60 * 10−5). Box plots: minima, 25th percentile, median, 75th percentile, maxima. f Rod and cone layers are shorter and became disorganised over time, with cone OSs detachment at 4 and 8 mpf (arrowheads). g False-coloured TEM micrographs reveal reduced density and OS dysmorphia of homozygotes at 8 mpf. Detached OSs (arrows) are engulfed by RPE. h Apoptotic cells (arrowheads) are observed in the outer retina of homozygotes but never WTs controls. IPL inner plexiform layer, INL inner nuclear layer, OPL outer plexiform layer, ONL outer nuclear layer, pR photoreceptor layer, IS inner segment, OS outer segment, RPE retinal pigment epithelium. See also Supplementary Figs. 9 and 10. Source data are provided as a Source Data file.

Expression Data
Antibodies:
Fish:
Anatomical Terms:
Stage Range: Days 45-89 to Adult

Expression Detail
Antibody Labeling
Phenotype Data
Fish:
Condition:
Observed In:
Stage Range: Days 7-13 to Adult

Phenotype Detail
Acknowledgments
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