This technology describes a transgenic mouse line that carries a mutant KCNQ3 gene, thereby serving as a model for KCNQ3-associated disorders such as developmental and epileptic encephalopathy.
Mutations in the ion channeling-encoding gene KCNQ3 are found in a subset of patients with developmental and epileptic encephalopathy, which are neurological conditions that result in severe cognitive impairment. Mechanistic studies of such mutations will be needed to create therapeutic strategies for the treatment of these conditions. However, preclinical research is currently limited by the lack of robust in vivo models for KCNQ3-related disorders.
This mouse model is a C57BL/6J mouse line that has had an R231H mutation introduced into the Kcnq3 mouse gene through CRISPR/Cas9 genome editing. This gain-of-function missense mutation models the genetic defect observed in human patients. As such, this transgenic mouse line has the potential to greatly improve preclinical research into the disease mechanisms of KCNQ3-related developmental and epileptic encephalopathy.
IR CU21045
Licensing Contact: Joan Martinez