Zebrafish Aniridia Models

Aniridia is a global ocular disorder that includes varying degrees of iris hypoplasia, glaucoma, foveal hypoplasia, nystagmus, glaucoma, cataracts, and corneal abnormalities, characterized by the complete or partial absence of the colored part of the eye (the iris). These iris abnormalities can lead to abnormal or deformed pupils. Aniridia can lead to decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

In recent years, zebrafish has become ideal for the discovery and understanding of genes regulating embryonic development and the physiology of adult organisms due to its rapid embryonic development, embryonic transparency, large number of offspring, and several other advantages. Zebrafish eye development displays deep molecular complexity and tight spatiotemporal regulation, including developmental contributions from superficial ectoderm, neuroectoderm, and head mesenchyme, similar to those seen in humans. Recently, zebrafish have been at the forefront of preclinical therapeutic development. They are amenable to genetic manipulation and ideal for examining ocular development, function, and disease, helping to generate robust ocular disease models needed for large-scale genetic and drug screening programs.

Fig.1 The anatomy of the zebrafish eye.

Our Zebrafish Aniridia Models

Creative Biogene offers a range of transgenic zebrafish aniridia models, such as PAX6 mutant zebrafish. This transgenic zebrafish line facilitates the identification of the PAX6 transcriptional network that drives normal development, thereby helping you understand the pathophysiology of the observed loss-of-function defects. In addition, our amplification through chromatin immunoprecipitation, promoter-reporter assays, and immunohistochemistry helps you improve your understanding of how genetic mutations contribute to the phenotype of aniridia and provide possible targets for therapeutic intervention.

Advantages

• Genetic screening of mutants for embryonic development
• Efficiently perform positional cloning
• Ease of loss-of-function genetic analysis
• Easy observation of the entire disease process

Creative Biogene is committed to providing you with excellent tools to study the mechanisms of aniridia to make possible therapeutic interventions. If you would like to learn more about zebrafish models, please feel free to contact us.

References

1. Wang X, Shan X, Gregory-Evans CY. A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. Biochim Biophys Acta Mol Basis Dis. 2017, 1863(1):60-67.
2. Richardson R, et al. The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond). 2017, 31(1):68-86.
3. Fadool JM, Dowling JE. Zebrafish: a model system for the study of eye genetics. Prog Retin Eye Res. 2008, 27(1):89-110.
4. Gur D, et al. The Dual Functional Reflecting Iris of the Zebrafish. Adv Sci (Weinh). 2018, 5(8):1800338.
5. Bhatia S, et al. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet. 2013, 93(6):1126-34.

For research use only. Not intended for any clinical use.