Fig. 8

Single-nucleus transcriptomic analyses of a Stripe brain and histological analyses of Stripe and Motley brains and eyes. A UMAP representation of single-nucleus RNA-seq data from the brain and spinal cord of an adult Stripe animal color-coded by microdissected area after CMOs demultiplexing. “NA” cells could not be assigned to either tissue. B UMAP representation with a color-code to distinguish glial cells (purple), excitatory neurons (dark blue), inhibitory neurons (light-blue), and other cell types (orange). C Violin plots showing the expression of CLCN2 in the different cell types in the brain and the spinal cord. D Hematoxylin/eosin-stained sections of the brain of juvenile and adult wild-type, Motley and Stripe animals. Vacuolation is visible in the brain of the juvenile Stripe individual. Scale bar: 100 μm. E Immunostaining of CLCN2 (red) and Ezrin (green) on eye sections from 6-month-old wild-type, Motley, and Stripe animals. CLCN2 labeled cells are situated in the outer nuclear layer (ONL) of the retina, but not the inner nuclear layer (INL). Ezrin labels the microvilli of Müller cells in the photoreceptors layer (PL). Nuclei are stained in blue with DAPI. Scale bar: 50 μm. CMO, cell multiplexing oligo; SC, spinal cord; Endo, endothelial cells; CSF-cN, cerebrospinal fluid contacting neurons; Oligo, oligodendrocytes; OPC, oligodendrocyte precursors; Micro, microglia; Astro, astrocytes; Exc neun, excitatory neurons; Inh neun, inhibitory neurons