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OMIA:000754-9913 : Osteogenesis imperfecta, generic in Bos taurus (taurine cattle)

In other species: dog , domestic cat , sheep

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 166210 (trait) , 166220 (trait) , 259420 (trait) , 259440 (trait)

Single-gene trait/disorder: unknown

Disease-related: yes

Cross-species summary: Abnormally brittle bones that fracture easily. See also gene-specific forms, e.g. OMIA:002112 : Osteogenesis imperfecta, COL1A2-related; OMIA:002533 : Osteogenesis imperfecta, CREB3L1-related; OMIA:001483 : Osteogenesis imperfecta, SERPINH1-related, OMIA:002127 : Osteogenesis imperfecta, type II, COL1A1-related and OMIA:002126 : Osteogenesis imperfecta, type III, COL1A1-related.

Molecular basis: 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)."

Breeds: Charolais (Cattle) (VBO_0000177), Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:000754-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2025 Jacinto, J., Letko, A., Gentile, A., Otter, A., Floyd, T., Collins, R., Richey, M., Carty, H., Scholes, S., Jones, A., Fuller, H., Häfliger, I.M., Strugnell, B., Studer, E., Benazzi, C., Bolcato, M., Starič, J., Diana, A., Weber, J., Freick, M., Lühken, G., Tammen, I., Kraft, D.C.E., Lindgren, C.M., Sickinger, M., Soto, S., O'Rourke, B.A., Agerholm, J.S., Drögemüller, C. :
Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. Genet Sel Evol 57:51, 2025. Pubmed reference: 40999323. DOI: 10.1186/s12711-025-01002-z.
2020 Zhang, X., Hirschfeld, M., Beck, J., Kupke, A., Köhler, K., Schütz, E., Brenig, B. :
Osteogenesis imperfecta in a male Holstein calf associated with a possible oligogenic origin. Vet Q 40:58-67, 2020. Pubmed reference: 31980012. DOI: 10.1080/01652176.2020.1721611.
1994 Agerholm, JS., Lund, AM., Bloch, B., Reibel, J., Basse, A., Arnbjerg, J. :
Osteogenesis imperfecta in Holstein-Friesian calves. Zentralbl Veterinarmed A 41:128-38, 1994. Pubmed reference: 8091888.
1993 Agerholm, J.S., Basse, A., Christensen, K. :
Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Vet Scand 34:245-53, 1993. Pubmed reference: 8310897. DOI: 10.1186/BF03548188.
1987 Fisher, LW., Eanes, ED., Denholm, LJ., Heywood, BR., Termine, JD. :
Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size. Calcif Tissue Int 40:282-5, 1987. Pubmed reference: 3107782.
1986 Fisher, LW., Denholm, LJ., Conn, KM., Termine, JD. :
Mineralized tissue protein profiles in the Australian form of bovine osteogenesis imperfecta. Calcif Tissue Int 38:16-20, 1986. Pubmed reference: 3079647.
1984 Termine, JD., Robey, PG., Fisher, LW., Shimokawa, H., Drum, MA., Conn, KM., Hawkins, GR., Cruz, JB., Thompson, KG. :
Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta. Proc Natl Acad Sci U S A 81:2213-7, 1984. Pubmed reference: 6585794.
1983 Denholm, LJ., Cole, WG. :
Heritable bone fragility, joint laxity and dysplastic dentin in Friesian calves: a bovine syndrome of osteogenesis imperfecta. Aust Vet J 60:9-17, 1983. Pubmed reference: 6830550.
1976 Jensen, P.T., Rusmussen, P.G., Basse, A. :
Congenital osteogenesis imperfecta in Charolais cattle Nordisk Veterinaermedicin 28:304-308, 1976. Pubmed reference: 940738.

Edit History


  • Created by Frank Nicholas on 30 Jun 2006
  • Changed by Frank Nicholas on 27 Jan 2020
  • Changed by Imke Tammen2 on 03 Dec 2020
  • Changed by Imke Tammen2 on 09 Oct 2025