{"id":"CU26397","slug":"mouse-model-for-cacna1a--CU26397","source":{"id":"CU26397","dataset":"techtransfer","title":"Mouse model for CACNA1A-associated neurological disorders","description_":"<p>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.</p>\r\r<h2>Unmet Need: Physiologically relevant models for CACNA1A-associated neurological disorders</h2>\r\r<p>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.  </p>\r\r<h2>The Technology: Orthologous CACNA1A D1634N mouse model</h2>\r\r<p>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.</p>\r\r<h2>Applications:</h2>\r\r<ul>\r<li>Preclinical evaluation of therapies for CACNA1A-associated neurological disorders</li>\r<li>Biomarker discovery</li>\r<li>Mechanistic studies of CACNA1A-associated neurological disorders</li>\r</ul>\r\r<h2>Advantages:</h2>\r\r<ul>\r<li>Models the orthologous human CACNA1A D1634N disease variant</li>\r<li>Recapitulates key neurological phenotypes and disease mechanisms</li>\r<li>Enables longitudinal preclinical studies </li>\r<li>Supports therapeutic development and target validation</li>\r</ul>\r\r<h2>Lead Inventor:</h2>\r\r<p><a href=\"https://www.pharmacology.cuimc.columbia.edu/research/colecraft-lab\">Henry Colecraft, PhD</a> </p>\r\r<h2>Related Publications:</h2>\r\r<ul>\r<li><a href=\"https://pubmed.ncbi.nlm.nih.gov/41699918/\">Niu J, Tong CK, Francois E, Frankel WN, Chung WK, Colecraft HM. “Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits” Brain. 2026 Feb 17:awag066.</a> </li>\r</ul>\r\r<h2>Tech Ventures Reference:</h2>\r\r<ul>\r<li><p>IR CU26397</p></li>\r<li><p>Licensing Contact: <a href=\"mailto:techtransfer@columbia.edu\">Joan Martinez</a></p></li>\r</ul>\r","tags":["Absence seizure","Ataxia","Biomarker","Cerebellum","Cognitive deficit","Disease","Epilepsy","Ion","Missense mutation","Mutation","Neurological disorder","Reaction mechanism","Sequence homology"],"file_number":"CU26397","collections":[],"meta_description":"Engineered D1585N mouse model mirrors human CACNA1A D1634N pathology for preclinical therapy, biomarker, and mechanism studies.","apriori_judge_output":"{\"scores\":{\"novelty\":4.0,\"potential_impact\":4.0,\"readiness\":3.0,\"scalability\":3.0,\"timeliness\":3.0},\"weighted_score\":3.5,\"risks\":[\"Genetic model may have off-target phenotypes not fully recapitulating human CACNA1A disorders\",\"Limited data on long-term therapeutic readouts in mice\",\"Intellectual property and freedom-to-operate not evaluated\"],\"one_sentence_take\":\"A physiologically relevant CACNA1A D1634N knock-in mouse model offers solid novelty and disease-relevant phenotypes for mechanistic and preclinical therapy studies, with moderate readiness and scalability potential, but needs IP clearance and broader validation.\"}","inventors":["Chi-Kun Tong","Henry Colecraft","Jacqueline Niu"],"manager":"Joan Martinez","depts":["Physiology and Cellular Biophysics"],"divs":["Columbia University Medical Center (CUMC)"],"date_released":"2026-07-24"},"highlight":{},"matched_queries":null,"score":0.0}