FIGURE

Figure 3

ID

ZDB-FIG-231016-73

Publication

Hodges et al., 2023 - Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma

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Figure 3

pmela mutants display systemic hypopigmentation and retarded eye size development. (A) Both pmela mutant alleles present with systemic hypopigmentation in homozygotes at 3 days post-fertilization (dpf). (B) Adult homozygous ua5030 zebrafish (−/−, top) display hypopigmentation when compared to heterozygous and wildtype fish. (C,D) Microphthalmia is observed in homozygous mutants from both alleles beginning by 4 dpf (days post-fertilization). Heterozygous pmela^+/ua5022 larvae show normal eye size, whereas heterozygous pmela^+/ua5030 larvae have reduced eye size. Considering the normal abundance of Pmela in pmela^+/ua5030 larvae (Figure 2E), this appears to be a dominant phenotype rather than haploinsufficiency.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	pmela^{ua5022/ua5022} (AB) pmela^{ua5030/ua5030} (AB) pmela^ua5022/+ (AB) pmela^ua5030/+ (AB)
Observed In:	eye integument
Stage Range:	Protruding-mouth to Days 7-13

Phenotype Detail

Acknowledgments

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