Phenotypes

Jacinto et al. (2025) investigated two aborted half-sib Stabiliser calves with osteogenesis imperfecta. Whole genome sequencing identified a likely "heterozygous missense variant in exon 21 of [the functional candidate gene] COL1A2, located in the triple-helical region (Chr4:g.11792118G > A; c.1156G > A; p.Gly386Arg) [omia.variant:1837]. ... The variant may be a de novo mutation inherited from a germinal mosaic sire."