A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant
Véronique Bolduc, Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull, Matthew Nalls, Jun Cheng, Lisa J Garrett, Carsten G. Bönnemann
The paper creates a humanized knock-in mouse model with a deep-intronic splice-activating variant to test antisense therapeutics for Collagen VI-related muscular dystrophies.
bioRxiv · Mar 21, 2024 · PreprintGenetics