A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the GNPAT gene
Arnaud Boulling, Julien Corbeau, Cécile Grohs, Anne Barbat, Jeremy Raphael Mortier, Sébastien Taussat, Vincent Plassard, Hélène Leclerc, Sébastien Fritz, Cyril Leymarie, Lorraine Bourgeois‐Brunel, Alain Ducos A, Raphaël R. Guatteo, Didier Boichard, Mekki Boussaha, Aurélien Capitan
The paper identifies a deep intronic splicing mutation in the GNPAT gene in cattle causing rhizomelic chondrodysplasia punctata, and demonstrates its phenotypic effects through genetic and functional analyses.
bioRxiv · Jun 13, 2024 · PreprintGenetics