The Centre for Phenogenomics
Catalyzing discovery. Creating knowledge. Improving health.
Developing and phenotyping new mouse models of development and disease
The Centre for Phenogenomics (TCP) is a national facility that supports cutting-edge research and discovery using mouse models. Our team of experts and the state-of-the-art infrastructure of TCP are available to help scientists advance their research programs. Leverage our expertise for all aspects of your mouse research so you can focus on data interpretation and research outcomes.
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“[TCP] helped generate the whole environment you need…What [TCP] really brings to the table is the willingness to understand on a deep level and then make it happen.”
Daniel Schramek, Senior Investigator, LTRI,
Associate Professor (Molecular Genetics, University of Toronto)
“[TCP] helped generate the whole environment you need…What [TCP] really brings to the table is the willingness to understand on a deep level and then make it happen.”
Daniel Schramek, Senior Investigator, LTRI, Associate Professor (Molecular Genetics, University of Toronto)
Research Spotlight
Mollica, Antonio et al. “Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.” Nature communications vol. 16,1 10637. 27 Nov. 2025, doi:10.1038/s41467-025-65634-x
This study links tubulinopathies and neurodevelopmental ciliopathies by identifying a de novo heterozygous missense mutation in TUBB (p.G308S) in a patient showing features of both disorders. Using patient-derived cells and gene edited cell lines, Antonio Mollica and colleagues in the laboratory of Dr Zhenya Ivakine, show that this variant disrupts early ciliogenesis by altering microtubule dynamics and structure. Consistent with these findings, mice carrying the mutation display reduced cilia formation in the cerebellum and kidney. Other TUBB mutations were also found to impair cilia formation. Together, the results establish defective ciliogenesis as a pathogenic mechanism in a subset of tubulinopathy patients.
Dr. Ivakine commented “TCP’s expertise generating ES cells and chimeras were pivotal to modelling the in vivo consequences of the TUBB variant underlying the patient’s phenotype.”