Available GM models

Genetically modified mouse models available for distribution

While Ozgene is best known for developing genetically modified mouse models on a fee-for-service basis, where customers retain full ownership of their models, we also collaborate with rare disease foundations and research organisations to develop strategically important models for the broader scientific community.

These community-accessible models are designed to accelerate research into rare genetic diseases by giving researchers access to high-quality, genetically validated mouse models without the time and cost of generating them independently. Models are distributed globally through Ozgene or selected distribution partners, including The Jackson Laboratory (JAX) and Mutant Mouse Resource & Research Centers (MMRRC).

Shank3 conditional knockout mouse model

C57BL/6J | Exons 4–22 | Community-accessible

Developed in collaboration with CureSHANK to accelerate research into Phelan-McDermid syndrome (PMS), SHANK3-related autism, and other SHANK3-associated neurodevelopmental disorders, this genetically precise Shank3 conditional knockout (cKO) mouse model provides researchers with a robust platform to investigate disease mechanisms and evaluate emerging therapeutic approaches.

As part of the CureSHANK collaboration, the model is integrated with InnoSer’s PMS preclinical testing platform, enabling greater consistency between disease modelling and therapeutic evaluation while expanding global access to the research community.

Shank3 mouse model at a glance

• Developed with CureSHANK to support the global PMS and SHANK3 research community
• Enables investigation of SHANK3 function, synaptic biology and neurodevelopmental disorders
• Integrated with InnoSer’s PMS preclinical testing platform
• Bred and distributed globally by Ozgene

Humanised STXBP1 Replacement mouse model

B6;C-Stxbp1^{tm1.1(STXBP1)Bpro}/Mmjax | Community-accessible
JAX Stock # 038753 | MMRRC Strain # 071410-JAX

Developed for researchers at the University of Pennsylvania Perelman School of Medicine, this humanised wild-type replacement mouse model was generated by Ozgene to support research into STXBP1-related neurological disorders. Replacing the endogenous mouse Stxbp1 gene and promoter with the human STXBP1 sequence provides a translational platform for studying human gene function and creating future disease-specific models carrying patient-derived mutations associated with epilepsy, intellectual disability and movement disorders.

STXBP1 mouse model at a glance

• Developed for the University of Pennsylvania Perelman School of Medicine
• Humanised replacement of the endogenous mouse Stxbp1 gene and promoter
• Foundational wild-type model for generating human disease-causing STXBP1 mutations
• Supports studies of synaptic transmission, neurotransmitter release and neurological disease mechanisms
• The strain is available from MMRRC, in collaboration with JAX.

NPC1 mouse models

B6.Cg-Npc1^tm1Tacf/J (Npc1^imagine) | JAX Strain # 033383
B6.Cg-Npc1^tm2Tacf/J (Npc1^pioneer) | JAX Strain # 033384
Community-accessible

Developed for the Addi and Cassi Fund to accelerate research into Niemann-Pick disease type C (NPC1), the Npc1imagine and Npc1pioneer mouse models provide complementary platforms for studying disease biology and evaluating new therapeutic approaches.

Together, these models enable researchers to investigate different disease-causing human NPC1 mutations, supporting studies of disease progression, lysosomal dysfunction, cholesterol trafficking, neurodegeneration, and the development of precision therapies. By making these models broadly available, the Addi and Cassi Fund aims to remove barriers to rare disease research and accelerate therapeutic discovery.

NPC1 mouse models at a glance

• Developed for the Addi and Cassi Fund to advance Niemann-Pick disease type C research
• Humanised models carrying clinically relevant NPC1 c.1554-1009G>A and NPC1 c.1920delG mutations
• Support studies of lysosomal dysfunction, cholesterol trafficking, disease progression and therapeutic development
• Enable translational and preclinical evaluation of emerging therapies
• Available for breeding, colony expansion and global distribution through The Jackson Laboratory
• See NPC1 publications for further details