Generation and characterization of a new AS mouse model that recapitulates the large deletion of human 15q11-q13 and a control line that carries a deletion of all genes in 15q11-q13 but UBE3A

Primary Investigator: Y. Jiang

Dr. Jiang will create a novel ~6MB full deletion Angelman syndrome mouse model. As we near a therapeutic aimed at getting a working copy of UBE3A into humans living with Angelman syndrome (AS), this work will contribute to the understanding of the other genes impacted in the largest population of individuals living with AS, those with a large deletion (>70% of individuals with AS), including numerous other genes around UBE3A and how these haploinsufficient genes may be contributing to symptoms of deletion positive individuals.