SYNGAP1 Mouse Models

Case ID:
C17320

Unmet Need

It is estimated that there are 177 million people in the world affected by non-syndromic intellectual disability and of that group 1% (or 1.77 million people) have a mutation in the SYNGAP1 gene (see SynGAP Research Fund). The SYNGAP1 gene is essential for mental health, and it is known that mutations in the gene lead to severe intellectual disability, epilepsy, and autism. In order to properly study the disease and investigate potential treatments, a model is needed that accurately represents the disease state. Therefore, there is a strong need to generate a mouse model with the human specific mutation in the SYNGAP1 gene.


Technology Overview

Researchers at Johns Hopkins have developed a mouse to model the human SYNGAP1 disease mutation. Using a CRISPR-Cas9 knockin strategy, researchers were able to generate a mouse line that has a SYNGAP1 exon 17 splice acceptor mutation known to contribute to the disease state. Interestingly, these mice recapitulate the hyperactivity and repetitive behavior observed in the patients with the same mutation. The mouse line provides a model to study the pathobiology of the SYNGAP1 mutation and test therapeutic candidates.


Stage of Development:  Mouse model is developed.


Publication: Mouse models of SYNGAP1-related intellectual disability. Proc Natl Acad Sci U S A. 2023 Sep 12;120(37):e2308891120. doi: 10.1073/pnas.2308891120. Epub 2023 Sep 5. PMID: 37669379

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For Information, Contact:
Christine Joseph
cjoseph6@jhmi.edu
410-614-0300
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