Molecular basis of a new ovine model for human 3M syndrome-2.
S A WoolleyS E HayesM R ShariflouF W NicholasC E WilletB A O'RourkeImke TammenPublished in: BMC genetics (2020)
The identification of a likely disease-causing variant resulting in a frameshift (p.(Val573Trpfs*119)) in the OBSL1 protein has enabled improved breeding management of the implicated flock. The opportunity for an ovine model for human 3M syndrome and ensuing therapeutic research is promising given the availability of carrier ram semen for BCRHS.