This technology is a genetically engineered mouse model carrying the CACNA1A mutation, D1585N, enabling preclinical studies of neurological disorder associated with the human D1634N variants.
Mutations in the CACNA1A gene are associated with neurological disorders including epilepsy, ataxia and cognitive impairment. Current treatments primarily alleviate the symptoms, but many patients are refractory to available therapies, and existing treatments do not prevent disease progression. In addition, there is a lack of physiologically relevant animal models for studying CACNA1A-associated neurological disorders. Many disease-associated CACNA1A variants remain poorly characterized, limiting understanding of how specific mutations alter ion channel function and drive neurological phenotypes. Improved disease models are needed to advance mechanistic studies and therapeutic development.
This technology is a genetically engineered D1585N knock-in mouse model that is the orthologous equivalent of human CACNA1A D1634N missense variant. This model recapitulates key neurological phenotypes observed in patients including ataxia, absence epilepsy, and cognitive deficits. It also reproduces the underlying loss-of-function defects in CaV2.1 channel activity and cerebellar dysfunction. As such, it provides a preclinical platform for studying disease mechanisms and evaluating therapeutic strategies for CACNA1A-associated neurological disorders.
IR CU26397
Licensing Contact: Joan Martinez
