Truncation of IFT80 causes early embryonic loss in cattle

Recessive alleles represent a substantial risk in populations that have undergone significant bottleneck events. Analyzing millions of genotypes and hundreds of sequenced bulls, we identified one pernicious recessive variant that achieved 1.66% frequency in the US Holstein population and confirmed loss of embryonic development via CRISPR-Cas9 editing. In the process, we identified the developmental significance of two protein domains of the IFT80 gene in the embryonic development of cattle.