Funding Research for Treatments and a Cure

An AS 15q11-13 deletion mouse model
← Back to Search

Dr. Ype Elgersma Ype Elgersma, PhD Erasmus MC, Rotterdam, Netherlands

An AS 15q11-13 deletion mouse model


Existing mouse models have a deletion of only UBE3A, which models a UBE3A mutation.  This project will develop two new mouse models to determine how the other genes missing in the AS deletion (as opposed to UBE3A mutation) contribute to the severity of the disorder. 

There will be two different models developed: 

  1. One will include UBE3A, GABRB3, GABRA5, GABRG3, ATP10A, HERC2, OCA2,  CYFIP1, NIPA1, and TUBGCP5. These are the genes that are deleted in individuals with Class I or Type I AS deletions. 
  2. The second mouse is missing all of those genes except for UBE3A. 

This study hopes to answer two major questions. 

  • Can we use this mouse model to better understand the deficits in individuals with AS due to deletion? 
  • What phenotypes might remain if we were to totally restore UBE3A using therapeutic approaches? 


Why This Study is Important

Individuals with AS caused by large deletions are more strongly affected than those who have mutations, UPD, or imprinting defects. It is not known which genes cause these stronger symptoms, and it is not known how much restoring UBE3A will be expected to improve the symptoms in individuals with AS caused by deletion. This mouse model is an important first step to help us understand both of these important topics.


Two mouse models for the 15q11-13 deletion, the most common mutation in AS patients, were successfully generated.