Leber Congenital Amaurosis (LCA), known as hereditary congenital retinal dystrophy or Alström-Olsen syndrome, is a severe, hereditary, blinding retinal dystrophy, accounting for approximately 5% of all inherited retinal diseases. This condition has an estimated global prevalence of 1 in 80,000 to 1 in 30,000, with rapid vision loss typically beginning in infancy. LCA is the earliest and most severe genetic retinal disorder, characterized by the complete loss of cone and rod photoreceptor function within the first year of life, leading to congenital blindness. This disorder is inherited in an autosomal recessive manner, with 17 distinct subtypes identified to date. Among them, LCA10 is the most prevalent, with mutations in the CEP290 gene recognized as a primary causative factor. The CEP290 gene encodes the centrosomal protein CEP290, which is localized at the basal body of photoreceptor cells and plays an essential role in ciliary formation, stability, and transport. This protein is positioned within the ciliary transition zone of cone and rod photoreceptors, where it is crucial for primary cilia formation and stability, mediating the trafficking of ciliary proteins between the inner and outer photoreceptor segments. Mutations in CEP290 are associated not only with LCA10 but also with other ciliopathies, including Joubert syndrome and nephronophthisis; antibodies against this protein have been linked to various cancers.

Current therapeutic strategies targeting CEP290 predominantly focus on gene therapy, including antisense oligonucleotides (ASO), CRISPR gene editing, and adeno-associated virus (AAV) delivery. In developing these therapeutic approaches, humanized mice serve as critical preclinical models. Given the genetic differences between mice and humans, humanizing the mouse Cep290 gene facilitates the evaluation of CEP290-targeted therapies in a model more representative of human physiology, expediting the translation of these therapies into clinical stages. This strain is a humanized mouse model of Cep290, in which the endogenous mouse Cep290 gene is replaced by the human CEP290 gene using gene-editing technology. It can be used to study Leber Congenital Amaurosis type 10 (LCA10). In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate mutation models based on this strain and provide customized services.