FIGURE SUMMARY
Title

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment

Authors
Sarusie, M.V.K., Rönnbäck, C., Jespersgaard, C., Baungaard, S., Ali, Y., Kessel, L., Christensen, S.T., Brøndum-Nielsen, K., Møllgård, K., Rosenberg, T., Larsen, L.A., Grønskov, K.
Source
Full text @ Hum. Mol. Genet.
Fig. 1

Variant in GFAP segregate with retinal dysplasia and vision loss.

Fig. 2

GFAP is expressed in human retinal neural progenitors.

Fig. 3

The p.Met310Asnfs*113 protein variant have similar aggregation properties as WT GFAP in vivo.

Fig. 4

Zebrafish promoter-less gfap mutants have smaller eyes which can be rescued with WT but not c.928dup mRNA.

Fig. 5

Gfap promoter-less mutants are visually impaired.

Fig. 6

MGCs, rods and double cones are abnormal in gfap promoter-less mutants

Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Hum. Mol. Genet.
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