BioCentury
ARTICLE | Distillery Techniques

A mouse model to screen therapies for Williams syndrome

May 14, 2019 2:19 PM UTC

TECHNOLOGY: Transgenics and knockouts

GTF2I-deficient mice could be used to screen therapies for Williams syndrome, which is caused by gene deletions on chromosome 7 that lead to learning and cardiovascular problems. Mice with GTF2I knocked out in forebrain excitatory neurons recapitulated the hypersociability, increased non-social anxiety, deficits in fine motor skills, as well as decreased axon myelination, neuronal conductivity and numbers of oligodendrocytes in the brain observed in patients with Williams syndrome. In the model, the generic muscarinic receptor antagonist clemastine or the tool compound potassium channel blocker aminopyridine decreased hypersociability and neuronal conductivity deficits and increased motor performance, the numbers of oligodendrocytes and axon myelination in the brain compared with pretreatment baselines or vehicle. Next steps could include using the model to screen additional therapies...