A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the GNPAT gene

Genetic defects that occur naturally in livestock species provide valuable models to investigate the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive genetic defects, due to their low genetic variability, while their large population sizes provide easy access to case and control individuals, as well as massive amounts of pedigree, genomic and phenotypic information recorded for selection purposes. In this study, we investigated a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac breed of beef cattle.