Animal models
PTEN mutant animal models have been extensively studied across the academic community and others, with conditional PTEN knock-out models having been developed for several different tissue types. Each of these models has shown varied phenotypic outcomes and have provided insight into the broad functional role of PTEN highlighting its importance for normal tissue function. Many of these models, although not all, are commercially available. Included here are the mouse models that have been utilised in studies funded by PTEN Research.
In addition, PTEN Research is supporting the generation of new PTEN mutant animal models. Information regarding these models is not currently available, however, this page will be updated once these models are developed and available.
Please note that this is not a comprehensive list of all the available models, and there may be other tools that are more suitable to your research needs, each of which have their own advantages and disadvantages.
The Vanhaesebroeck laboratory at University College London (UK) has generated a Pten+/R173C missense mutation mouse and characterised this model in collaboration with other research groups. The PTEN-R173C mutation is commonly observed in somatic tumours, and has been reported in patients diagnosed with PHTS (ClinVar Variation ID: 189500).
PTEN-R173C has reduced protein stability but retains its ability to dephosphorylate PIP3 and therefore regulate the canonical PI3K/AKT pathway in the cytosol. However, this PTEN mutant is largely excluded from the nucleus. In a systemic, germline heterozygous context the R173C mutation is not a strong driver for tumour development, but results in macrocephaly and lymphadenopathy.
This project received funding from PTEN Research.
This mouse model can be obtained from the European Mouse Mutant Archive (EMMA; ID 14917).