Osteogenesis imperfecta, generic
Phenotype Details
- Phene ID
- 1383
- Name
- Osteogenesis imperfecta, generic
- Phene Name
- N/A
- OMIA ID
- 754
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Molecular Genetics
By genome sequencing an affected male Holstein calf and its parents, Zhang et al. (2020) were not able to identify a single likely causal variant, and concluded that this particular form of osteogenesis imperfecta may be oligogenic, i.e. multifactorial.
Jacinto et al. (2025) conducted whole genome sequencing of a stillborn female Holstein calf with osteogenesis imperfecta and dentinogenesis imperfecta and it's sire and dam. Variant filtering for a suspected recessive mode of inheritance identified an intronic variant "of uncertain significance in intron 3 upstream of exon 4 of [the functional candidate gene] PPIB (Chr10:g.45822912G > C; c.320-443G > C)."