Customized Rodent Models of Leber Congenital Amaurosis

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Mouse models of Leber congenital amaurosis (LCA) provide a reproducible experimental system that provides a powerful research platform for translational research on delaying disease progression, novel therapeutic design strategies, and candidate compound testing. To support this purpose, Ace Therapeutics has successfully developed a variety of LCA rodent (mice) models to serve global customers. In addition, we can develop customized models through genetic manipulation. You have reasons to believe that we are your most reliable partner on the road to success.

Rodent Models of Leber Congenital Amaurosis

Leber Congenital Amaurosis and Rodent Models

Leber congenital amaurosis (LCA), an inherited retinal degenerative disorder associated with mutations in at least 18 genes, is the most common cause of incurable blindness in children. It is characterized by severe vision loss in the first year of life. Among the genes causing LCA, CEP290, GUCY2D, CRB1, and RPE65 were the most frequently mutated genes. Many animal models of LCA have been developed to understand the pathology of the disease and develop novel strategies to cure or slow down LCA. Rodent (mouse) models are powerful tools for studying LCA etiology due to their well-developed genetics and similarities to human physiology and anatomy.

Fig. 1. LCA related mutations in RPE65 gene. (Mo G, et al., 2014)

Service Overview

Given its monogenic nature and eye immunological and anatomical privileges, LCA has become a cutting-edge target for research worldwide. As one of the global leaders in eye disease models, Ace Therapeutics has developed a variety of efficient, high-quality rodent Leber congenital amaurosis models to meet the needs of scientific researchers worldwide.

Explore Ace Therapeutics' Rodent Models of Leber Congenital Amaurosis

Although LCA may be associated with mutations in 18 genes, the vast majority of LCA patients have RPE65 deficiency. Given this, Ace Therapeutics develops a mouse LCA model with RPE65 knockouts. In this model, severe visual impairment was similar to human LCA, and progressive retinal degeneration, severe visual loss, rhodopsin photopigment deficiency, and all-trans accumulation were both detected.

In addition, Ace Therapeutics also develops NMNAT1-Leber congenital amaurosis (LCA9) mouse model, CEP290-Leber congenital amaurosis (LCA10) mouse model and RDH12-Leber congenital amaurosis (LCA) mouse model.

Tab. 1. Ace Therapeutics' Rodent Models of Leber Congenital Amaurosis

Disease	Genes
Leber Congenital Amaurosis type 2（LCA2）	RPE65
Leber Congenital Amaurosis type 9（LCA9）	NMNAT1
Leber Congenital Amaurosis type 10（LCA10）	CEP290
Leber Congenital Amaurosis （LCA）	RDH12

Ace Therapeutics aims to provide our global customers with a powerful tool for translational research, novel therapeutics development, and candidate compound testing for Leber congenital amaurosis. 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

Mo G, Ding Q, Chen Z, et al. A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro. PLoS One. 2014 Nov 10;9(11):e112400.
Greenwald SH, Charette JR, Staniszewska M, et al. Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 Jul;186(7):1925-1938.
Chang B. Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. Methods Mol Biol. 2016;1438:417-30.

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