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Animal Models for Leber's Congenital Amaurosis

Animal models are crucial for Leber's congenital claustrophobia (LCA) research and treatment development. Our company provides customized animal modeling services for LCA to help our clients elucidate genetic defects underlying retinal disease, understand disease mechanisms, and provide tools for translational research and development of gene-based therapies to interfere with disease progression. With over 20 years of experience in animal modeling and a team of experts with extensive knowledge and expertise, we are confident in our ability to provide high-quality services for LCA research.


LCA is a rare genetic retinal degenerative disease that affects the eyes. In addition to early vision loss, the disease is associated with other ocular abnormalities, including roving eye movements, deep-set eyes, and sensitivity to bright light. LCA is caused by mutations in one of several genes involved in the development and function of the retina, the light-sensitive tissue at the back of the eye. Of these, LCA caused by mutations in the RPE65 gene accounts for ~20% of the disease in the human population and is an ideal target for developing treatments. Although there is no cure for LCA, preclinical studies being conducted in multiple LCA animal models may lead to improved treatments and possibly a cure in the future.

Graphical abstract of visual function restoration in a LCA mouse model via therapeutic base editing.

Fig. 1 Graphical abstract of visual function restoration in a LCA mouse model via therapeutic base editing. (Jo D H, et al., 2023)

Disease Modeling Services

Our team of experts can provide customized animal models with LCA-associated mutations, as well as perform various tests and assays to evaluate potential treatments' efficacy. We have developed various animal models to mimic LCA genetic defects and clinical features. These include mice, dogs, and cats.

  • Mouse models
    Mouse models have the advantages of low cost and relatively fast disease progression, with the ability to perform precision genetic manipulation. We provide clients with mouse models for all 17 human LCA-causing genes. Our mouse models include B6(A)-Rpe65rd12/J, C57BL/6J-Rpgrip1nmf247/J, B6.129-Crxtm1Clc/J, STOCK Crb1rd8/J, B6.Cg-Cep290rd16/Boc, B6.Cg-Rd3rd3/Boc, and B6.129X1-Tulp1tm1Pjn/Pjn.
  • Dog models
    We provide clients with dog LCA models as dogs share genetic and anatomical similarities with humans. Our spontaneous Rpe65-mutant dogs are promising in preclinical studies of gene therapy for LCA.
  • Cat models
    We provide the CrxRdy cat, which carries a spontaneous frameshift mutation in Crx, as a large animal model for CRX-associated LCA. The similarity between the cat eye and the human eye is the presence of a central region of high cone density. This makes the cat model valuable for preclinical testing of therapies for dominant CRX disease.

Characterization Services

We provide animal models with specific mutations in LCA-related genes and offer breeding and maintenance services for these models. We also evaluate the phenotype of these models by various tests and measurements, including but not limited to:

  • Ophthalmic examination and fundus imaging
  • Electroretinography (ERG)
  • Retinal morphology analysis (SD-OCT, IHC)
  • qRT-PCR, Western blot assay, and dual-luciferase assay

Our team of experts has extensive knowledge and expertise in the development and characterization of animal models, as well as in the evaluation of potential treatments. We use state-of-the-art facilities and equipment to ensure the highest quality LCA animal modeling and testing services and offer competitive pricing and timely delivery. If you are interested in our animal modeling services, please contact us for more information.


  • Jo D H, et al. Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing. Molecular Therapy-Nucleic Acids, 2023, 31: 16-27.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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