Mouse model for KCNQ3-related disorders

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.

Unmet Need: In vivo model for KCNQ3 mutations

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.

The Technology: Mouse model for KCNQ3 developmental and epileptic encephalopathy

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.

Applications:

• In vivo mechanistic studies of KCNQ3 R231H mutation
• In vivo model for treatments of KCNQ3-associated encephalopathy
• Mouse line for genetic crossings with other mouse models

Advantages:

• Germline mutation
• Mouse line generated through CRISPR/Cas9 gene editing
• Clinical relevance of R231H mutation

Lead Inventor:

Wayne Frankel, Ph.D

Tech Ventures Reference:

• IR CU21045

• Licensing Contact: Joan Martinez