Figure 3 | Genetics in Medicine

Figure 3

From: Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Figure 3

GRID2 expression. (a) GRID2 messenger RNA (mRNA) expression in human complementary DNA (cDNA) of adult and fetal cerebellum, adult cerebral cortex, adult retina, and adult retinal pigment epithelium (RPE), with the strongest expression in cerebellum, similar expression in retina and cerebral cortex, and lower expression in RPE. (b) Grid2 mRNA expression at different developmental stages of retina from neonate (P0) and adult mice (P60). Increasing Grid2 gene expression with progressing development, reaching constant expression levels in adult mice, consistent with gene expression profiles of other retinal genes. (c,d) Representative fluorescent images of horizontal cross-sections of (c) human and (d) mouse retina stained with anti-GRID2 antibody (red, 1:250). Retinal counterstaining was performed with 4′,6-diamidino-2-phenylindole (DAPI) (blue). (c) GRID2 immunoreactivity is detected in the photoreceptor inner segments (IS), the outer plexiform layer (OPL), and the ganglion cell layer (GCL). (d) Grid2 immunoreactivity in the murine retina is more globally distributed along photoreceptor IS, the inner nuclear layer (INL)/inner plexiform layer (IPL) margin, and the GCL. ONL, outer nuclear layer; OS, outer segments.

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