ZFIN All Figures, Sarusie <i>et al.</i>, 2024

Sarusie et al., 2024

ZDB-PUB-241030-5
PMID:39471354
Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. S2
Fig. S3

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.

PHENOTYPE:

Fish:	gfap^{zf4214/zf4214} (AB) gfap^zf4214/+ (AB)
Observed In:	eye eye apoptotic process lens apoptotic process photoreceptor outer segment layer retinal cone cell retinal ganglion cell layer retinal ganglion cell layer cell retinal inner nuclear layer retinal inner nuclear layer cell retinal inner plexiform layer retinal outer nuclear layer retinal pigmented epithelium retinal rod cell
Stage Range:	Prim-25 to Adult

Phenotype details

Fig. 5

Gfap promoter-less mutants are visually impaired.

PHENOTYPE:

Fish:	gfap^{zf4214/zf4214} (AB) gfap^zf4214/+ (AB)
Observed In:	optomotor response startle response
Stage:	Days 7-13

Phenotype details

Fig. 6

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

EXPRESSION / LABELING:

Antibodies:	Ab2-pcna Ab3-fabp7 zpr-3
Fish:	AB gfap^{zf4214/zf4214} (AB) gfap^zf4214/+ (AB)
Anatomical Terms:	ciliary marginal zone Muller cell retinal cone cell retinal rod cell
Stage Range:	Protruding-mouth to Adult

Expression / Labeling details

PHENOTYPE:

Fish:	gfap^{zf4214/zf4214} (AB) gfap^zf4214/+ (AB)
Observed In:	ciliary marginal zone ciliary marginal zone cell population proliferation Muller cell Muller cell cell population proliferation retinal cone cell retinal rod cell
Stage Range:	Protruding-mouth to Adult

Phenotype details

Fig. S2

ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions.

EXPRESSION / LABELING:

Gene:	gfap
Antibody:	zrf-1
Fish:	AB gfap^{zf4213/zf4213} (AB) gfap^{zf4214/zf4214} (AB) gfap^zf4213/+ (AB) gfap^zf4214/+ (AB)
Anatomical Terms:	Muller cell retina astrocyte whole organism
Stage Range:	Protruding-mouth to Day 6

Expression / Labeling details

PHENOTYPE:

Fish:	gfap^{zf4213/zf4213} (AB) gfap^{zf4214/zf4214} (AB) gfap^zf4213/+ (AB) gfap^zf4214/+ (AB)
Observed In:	Muller cell retina astrocyte whole organism
Stage Range:	Protruding-mouth to Day 6

Phenotype details

Fig. S3

PHENOTYPE:

Fish:	gfap^{zf4213/zf4213} (AB) gfap^zf4213/+ (AB)
Observed In:	Muller cell
Stage:	Day 6

Phenotype details

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.

Sarusie et al., 2024 ZDB-PUB-241030-5 PMID:39471354

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

Sarusie et al., 2024

ZDB-PUB-241030-5
PMID:39471354