Mouse Models

The 3q29 region in humans exists on chromosome 16 in the mouse. Using CRISPR/Cas9 gene editing technology, we generated a heterozygous deletion of the 3q29 region on four different inbred mouse strains.

Using this mouse model, we will use behavior studies to reveal any cognitive and/or psychomotor deficits. Behavioral characteristics observed in a given experiment will reveal what brain regions are affected by the deletion. In addition, we will perform RNA sequencing to discover what molecular pathways in the brain are changed by this deletion.

Furthermore, the use of CRISPR will allow us to identify what gene(s) is driving the neurological phenotypes. To do this, we are generating additional mouse models carrying sub-deletions of the 3q29 region. The results from these mouse models will be compared with the data from the mouse model with the full-3q29 deletion and analyzed for behavioral and molecular differences.

By doing these studies, we will better understand how the 3q29 deletion leads to neurological deficits in the mouse. Our hope is that these findings will provide additional information, allowing us to design treatments that will reduce or eliminate patient symptoms.