OMIA 000755-9913 : Osteopetrosis in Bos taurus

In other species: ass , horse , rabbit , Japanese quail

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Molecular basis: The molecular basis for this disorder was described by Meyers et al. (2010)

Genetic testing: A DNA test is now available. See, for example, http://www.agrigenomicsinc.com/species.html

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC4A2 solute carrier family 4 (anion exchanger), member 2 Bos taurus 4 NC_037331.1 (113636347..113651449) SLC4A2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Angus Friesian Hereford Holstein Simmental Osteopetrosis SLC4A2 deletion, gross (>20) UMD3.1 4 g.114437192_114439942del "approximately 2.8-kb deletion mutation in affected calves that encompasses exon 2 and nearly half of exon 3" 2010 20507629 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)

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.
2012 O'Toole, D., Swist, S., Steadman, L., Johnson, G.C. :
Neuropathology and craniofacial lesions of osteopetrotic Red Angus calves. Vet Pathol 49:746-54, 2012. Pubmed reference: 21768604. DOI: 10.1177/0300985811412621.
2010 Meyers, SN., McDaneld, TG., Swist, SL., Marron, BM., Steffen, DJ., O'Toole, D., O'Connell, JR., Beever, JE., Sonstegard, TS., Smith, TP. :
A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. BMC Genomics 11:337, 2010. Pubmed reference: 20507629. DOI: 10.1186/1471-2164-11-337.
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.
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., 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.
Leipold, H.W., Huston, K., Dennis, S.M. :
Congenital osteopetrosis in Aberdeen Angus calves Canadian Veterinary Journal 11:42 only, 1970.
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