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90 Mutations with 1 Gene: Functional Analysis of Variants Using C. elegans

How many mutations can you possibly have with one gene? Let’s see what CRISPR can deliver.

We created over 90 point mutations in the STXBP1 gene via CRISPR! A map of these point mutations can be seen below. Clinical variants were selected from the ClinVar database, literature, the Gnomad database, clinical researchers, and the STXBP1 foundation.

96 Point Mutations in STXBP1 We received a Phase 1 SBIR to characterize point mutations in the STXBP1 gene, which is associated with epilepsy in humans. The worm homolog of STXBP1, unc-18, causes uncoordination and near-complete lack of pharyngeal pumping when knocked out. The functionality is restored by replacing the worm gene with the coding sequence for human STXBP1.  Learn more about our C. elegans point mutation services and Neurodegenerative Disease Models.

About The Author

Trisha Brock

Dr. Brock is the Director of Research & Technical Delivery at InVivo Biosystems. She has been creating and studying transgenic C. elegans for 17 years including training at Washington State University, University of Utah, and Harvard. At InVivo Biosystems, Dr. Brock brings technical expertise in the application of genetics and genetic engineering to create and use animal models for biomedical research.

About The Author

Kathryn McCormick

Kat has a BA from Bryn Mawr College, where she studied leech electrophysiology, and a Ph.D. from University of Oregon, where she studied the neuronal basis of navigation under Dr. Shawn Lockery. She joined InVivo Biosystems in 2014 and led the R&D group for 5 years before transitioning to a role in Business Development. Outside of work, she enjoys reading, cooking, and spending time with her 3 year old and new baby.

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