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Mouse Model Project Update: Phase I complete!

Dear SDS community,

We are excited to provide an update about the progress of the Mouse Model Project!

To recap, we launched this project last summer to fill a critical gap in the research toolbox: A mouse model that contains the exact mutation that over 90% of SDS patients have, with the hope that they will be viable and/or show relevant symptoms researchers can measure when evaluating the efficacy of new therapies and cures.

Please check out the two previous posts for background and details:

We are happy to report that Jackson Laboratory has completed the first phase of the project. They have created mice in which a large segment of the mouse version of the SBDS gene is replaced by the human sequence, including the human SBDS splice site mutation (aka the 258+2T>C mutation) that is responsible for SDS in the vast majority of SDS patients!

The research team is now entering into the next phase of the project, which is to characterize the gene expression (i.e. how does the humanized gene behave in the mouse) and evaluate viability and symptoms. Additionally, the team is exploring various genetic backgrounds to modulate disease severity.

While this work is ongoing, we are tirelessly working on further expanding the toolbox for SDS research with additional types of disease models and more. Before new therapies can be tested on real life human patients, researchers have to first show that it works in several types of disease models and is safe. In addition to animal models (typically mouse models), patient-derived cells (in a petri dish) are another critical tool to test and demonstrate that the therapy is likely to work in real patients.

Therefore, we are launching a biobank for patient-derived cells to be available to researchers anywhere in the world, quickly, easily, and cost effectively. More details and information on how to participate – or order cell lines if you are a researcher – are coming very soon. In the meantime, please email us at for more information.


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