Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.

ABSTRACT:

Background

Infants and children with dominant de novo mutations in GNAO1 exhibit movement disorders, epilepsy, or both. Children with loss-of-function (LOF) mutations exhibit Epileptiform Encephalopathy 17 (EIEE17). Gain-of-function (GOF) mutations or those with normal function are found in patients with Neurodevelopmental Disorder with Involuntary Movements (NEDIM). There is no animal model with a human mutant GNAO1 allele.

Objectives

Here we develop a mouse model carrying a human GNAO1 mutation (G203R) and determine whether the clinical features of patients with this GNAO1 mutation, which includes both epilepsy and movement disorder, would be evident in the mouse model.

Methods

A mouse Gnao1 knock-in GOF mutation (G203R) was created by CRISPR/Cas9 methods. The resul

SUBMITTER: Feng H 

PROVIDER: S-EPMC6347370 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature