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Customized Zebrafish Models of Leber Congenital Amaurosis

Zebrafish offer an unparalleled opportunity to model photoreceptor diseases in the cone-rich retina, such as leber congenital amaurosis (LCA). As an expert in ocular pharmacology research, Ace Therapeutics is committed to providing a series of zebrafish mutant models of leber congenital amaurosis to global customers. These models can help our clients further understand disease mechanisms, test potential therapies, and screen candidate compounds.

Zebrafish Models of Leber Congenital Amaurosis

What Is Leber Congenital Amaurosis?

Leber congenital amaurosis (LCA) is a retinal dystrophy disorder with enormous genetic heterogeneity that causes severe visual dysfunction. LCA usually presents as vision loss congenitally or in early infancy. Research finds that at least 18 genes are currently associated with LCA, and the most frequently mutated genes are RPE65, GUCY2D, and CEP290. Many animal models of LCA have been developed to understand the pathology of the disease and develop new strategies to cure or slow down LCA. The zebrafish is a powerful model for photoreceptor development and LCA, primarily because the zebrafish retina is similar in development, structure, and function to humans, and there are many tools available to assess zebrafish visual responses, photoreceptor function, and form. In addition, well-established techniques for generating transgenic and mutant animals make it easier to create stable preclinical animal models.

Fig. 1. Genetic strategies to isolate zebrafish visual mutants. (Iribarne M, et al., 2019)

Service Overview

As we all know, the study of hereditary retinal diseases largely relies on animal models. Leber congenital amaurosis (LCA) is a severe hereditary photoreceptor disease, and its occurrence is associated with RPE and photoreceptor gene mutations. As a comprehensive animal model supplier for ocular diseases, Ace Therapeutics is committed to providing our customers with fast, robust, and highly reproducible zebrafish LCA models with a low incidence of adverse reactions during the study by exploring the potential link between known human mutant genes and zebrafish.

Explore Ace Therapeutics' Zebrafish Models of Leber Congenital Amaurosis

Ace Therapeutics develops a series of zebrafish gene-mutated leber congenital amaurosis models by introducing mutations into zebrafish. It is worth mentioning that forward genetic screening (ethylnitrosourea induction), targeted gene mutation (zinc finger nuclease, transcription activator-like effector nuclease (TALEN)) and (CRISPR)/Cas are frequently used strategies for introducing mutations by our researchers.

These models exhibited distinct LCA or LCA-like phenotypes consistent with human LCA patients, including shortened, deteriorated rod outer segments, ciliogenesis defects, degeneration of photoreceptors, and failure to develop photoreceptor outer segments.

Ace Therapeutics provides the following zebrafish mutant models of leber congenital amaurosis to customers around the world, including but not limited to:

Tab.1. Ace Therapeutics' zebrafish mutant models of leber congenital amaurosis.

Gene	Photoreceptor Features
cluap1	No outer segments development, rapid photoreceptor degeneration.
gdf6a	Short, dysmorphic cones and expanded, disorganized rods at 7 dpf.
ift57	Short outer segmentss with normal disc stacking at 4 dpf. Central retina photoreceptor degeneration at 5 dpf.
ift88	No outer segments development, rapid photoreceptor degeneration.
ift122	Normal photoreceptor outer segments development. Degeneration starting at 7 dpf, severe degeneration by 10 dpf.
ift172	No outer segments development, rapid photoreceptor degeneration.
kiaa0586	Fewer outer segmentss observed at 3 dpf, photoreceptor degeneration observed at 4 dpf. Decreased photoreceptor function detected at 6 dpf.
kif3a	No outer segments development and rapid rod photoreceptor degeneration by 5 dpf, subsequent cone degeneration. Extinguished photoreceptor response at 7 dpf.
napbb	Immediate, severe photoreceptor degeneration; cell death observed at 3 dpf, no distinct photoreceptor layer at 6 dpf, few photoreceptors in ciliary margin.
tmem216	Short cilia and disorganized outer segments discs by 7 dpf, rapid degeneration. Few photoreceptors remaining by 14 dpf.

Ace Therapeutics aims to provide our global customers with a powerful analytical tool to study inherited retinal diseases. If you are interested in our services or need more detailed information, please feel free to contact us. Our experienced scientists are ready to help you!

References

Iribarne M. Zebrafish Photoreceptor Degeneration and Regeneration Research to Understand Hereditary Human Blindness. Visual Impairment and Blindness - What We Know and What We Have to Know. 2019.
Noel NCL, MacDonald IM, Allison WT. Zebrafish Models of Photoreceptor Dysfunction and Degeneration. Biomolecules. 2021,11(1):78.

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