A new SHANK3 conditional knockout mouse model from InnoSer, CureSHANK and Ozgene has been launched to advance research into Phelan-McDermid syndrome, other neurodevelopmental disorders and the development of new therapies.
A new genetically engineered mouse model designed to advance research into Phelan-McDermid syndrome (PMS) and related neurodevelopmental disorders has been launched through a collaboration between InnoSer, CureSHANK and Ozgene.
The SHANK3 conditional knockout model, developed on the C57BL/6J background, is intended to provide researchers with simplified and predictable access to a high-quality SHANK3 research resource. The partners say the initiative will support both academic discovery and translational therapeutic programmes targeting SHANK3 haploinsufficiency.
Genetically precise exon deletion model
Phelan-McDermid syndrome is a rare genetic condition caused by disruption of the SHANK3 gene, leading to developmental delay, absent or limited speech and a high likelihood of autism spectrum disorder, with research now focused on targeted therapies to restore gene function.
The new model features loxP sites flanking exons 4–22 of the SHANK3 gene. When crossed with Cre-driver lines, these exons can be excised to generate a full SHANK3 knockout.
The exon-targeting strategy builds on previously published Ex4–22 deletion models, which demonstrated removal of all major murine SHANK3 isoforms and exhibited behavioural, cognitive and motor phenotypes associated with SHANK3 haploinsufficiency.
Generated using Ozgene’s patented goGermline technology, the model is designed to offer high levels of genetic accuracy and reproducibility, while also improving ethical efficiency in animal production. Ozgene will act as the global distributor, maintaining active colonies in Indianapolis in the United States, with optional housing in Perth, Australia, enabling rapid study initiation for research teams worldwide.
“This new model provides a genetically robust platform for advancing research in PMS, SHANK3-related autism spectrum disorder (ASD) and other neurodevelopmental disorders linked to SHANK3 haploinsufficiency," said Dr Frank Koentgen, Founder of Ozgene.
Broad research and therapeutic applications
Because the Ex4–22 deletion removes coding regions for all major SHANK3 isoforms, the model is expected to support a wide range of research applications. These include studies of SHANK3 haploinsufficiency and synaptic biology, as well as preclinical evaluation of gene therapies, antisense oligonucleotides and other approaches aimed at restoring SHANK3 function.
It is also hoped that it will assist in the development of translational and behavioural biomarkers and in modelling rare neurodevelopmental disorders involving SHANK3 loss.
Standardised preclinical platform in development
InnoSer is developing a standardised Phelan-McDermid syndrome preclinical testing platform using the new SHANK3 conditional knockout model. The company said results from validation studies will be shared once complete.
Expected to launch in late 2026, the platform will offer behavioural, cognitive, sensorimotor and biomarker-based assessments to support therapeutic development programmes. Studies will be delivered on a fee-for-service basis under a commercial use licence that does not include reach-through intellectual property claims or downstream royalties. InnoSer will not supply animals directly to clients, with all distribution managed exclusively by Ozgene.
“Preclinical research is a critical and complex step in developing effective therapies for rare genetic disorders like Phelan-McDermid syndrome. By combining a mouse model offered through streamlined access with standardised preclinical services, we’re providing a practical, scalable solution for researchers who want to move quickly and confidently, helping accelerate the journey from discovery to clinical trials with the goal of ultimately bringing new treatments to patients faster,” said Dr Maarten Loos, Director of InnoSer Laboratories in the Netherlands.
Controlled access under standard licences
Researchers can access the model directly from Ozgene through a range of options, including study-ready experimental cohorts, breeding pairs or trios for internal use, custom background backcrossing and long-term colony management in Australia or the United States.
The model will also be listed in public databases such as Mouse Genome Informatics to increase visibility within the global research community.
“The SHANK3 community needs tools that are easy to access and straightforward to work with. By simplifying how researchers obtain and use this model, and by supporting complementary preclinical services, we hope to accelerate the path to urgently needed therapies,” said Geraldine Bliss, Co-founder and President of CureSHANK.
