OMIA:000755-9913 : Osteopetrosis in Bos taurus (taurine cattle)

In other species: ass (donkey) , horse , rabbit , Japanese quail , yellow-crowned parrot

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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 259700 (trait) , 259710 (trait) , 259720 (trait) , 259730 (trait) , 600329 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Considered a defect: yes

Key variant known: no

Key variant is published: no

Species-specific description: See also OMIA 002443-9913 : Osteopetrosis, SLC4A2-related in Bos taurus for this disease caused by a mutation in the SLC4A2 gene.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Angus (Cattle) (VBO_0000104), Hereford (Cattle) (VBO_0000232).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000755-9913: 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.

1989 Wolf, DC., Van Alstine, WG. :
Osteopetrosis in five fetuses from a single herd of 16 cows. J Vet Diagn Invest 1:262-4, 1989. Pubmed reference: 2488350.
1986 Dennis, S.M., Schalles, R. :
Osteopetrosis in cattle. Bovine Pract 21:96–101, 1986.
1977 Guffy, M.M., Leipold, H.N. :
Radiological diagnosis of economically important genetic defects in cattle Journal of the American Veterinary Radiology Society 18:109-116, 1977.
Leipold, H.W., Cook, J.E. :
Osteopetrosis in Angus and Hereford calves American Journal of Pathology 86:745-748, 1977. Pubmed reference: 557290.
1975 Ojo, S.A., Leipold, H.W., Cho, D.Y., Guffy, M.M. :
Osteopetrosis in two Hereford calves Journal of the American Veterinary Medical Association 166:781-783, 1975. Pubmed reference: 1120737.
1974 Greene, HJ., Leipold, HW., Hibbs, CM., Kirkbride, CA. :
Congenital osteopetrosis in Angus calves. J Am Vet Med Assoc 164:389-95, 1974. Pubmed reference: 4813526.
1971 Leipold, H.W., Huston, K., Dennis, S.M., Guffy, M.M. :
Hereditary osteopetrosis in Aberdeen Angus calves. I. Pathological changes Annales de Genetique et de Selection Animale 3:245-253, 1971.
1970 Leipold, H.W., Huston, K., Dennis, S.M. :
Congenital osteopetrosis in Aberdeen Angus calves Canadian Veterinary Journal 11:42 only, 1970.
Leipold, H.W., Doige, C.E., Kaye, M.M., Cribb, P.H. :
Congenital osteopetrosis in Aberdeen Angus calves Canadian Veterinary Journal 11:181-185, 1970. Pubmed reference: 5466738.
1969 Murphy, HM. :
A review of inherited osteopetrosis in the mouse. Man and other mammals also considered. Clin Orthop Relat Res 65:97-109, 1969. Pubmed reference: 4895800.

Edit History


  • Created by Frank Nicholas on 30 Mar 2011
  • Changed by Frank Nicholas on 29 Nov 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Aug 2019
  • Changed by Imke Tammen2 on 28 Sep 2021
  • Changed by Imke Tammen2 on 08 Oct 2023