A frameshift mutation in PRICKLE1 causes skeletal dysplasia in Cheviot sheep
Oswald Matika, Megan G. Davey, Jorge del Pozo, Heather A. Finlayson, Colin Farquharson, Denis J. Headon, James Kijas, Lynn McTeir, Cameron Batho-Samblas, Elizabeth Watson, Valentina Riggio, Jeffrey J. Schoenebeck, Tobias Schwarz, Katherine Ann Staines, Ricardo Pong‐Wong, , Alan L. Archibald
The paper identifies a 10 bp deletion in PRICKLE1 causing skeletal dysplasia in Cheviot sheep and develops a DNA test to eliminate the mutation.
bioRxiv · Oct 9, 2026 · PreprintGenetics