OMIA 002443-9913 : Osteopetrosis, SLC4A2-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 109280 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Inheritance: O'Toole et al. (2012): "Six affected aborted or stillborn calves were homozygous for the recently characterized deletion mutation in SLC4A2. Four affected calves were heterozygous for the SLC4A2 mutation and survived 1 to 7 days after birth."

Breed: Red Angus.

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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
647 Angus Friesian Hereford Holstein Simmental Osteopetrosis SLC4A2 deletion, gross (>20) Naturally occurring variant ARS-UCD1.2 4 g.113638011_113640784del "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.
2021 Konovalova, E., Romanenkova, O., Kostyunina, O., Gladyr, E. :
The molecular bases study of the inherited diseases for the health maintenance of the beef cattle. Genes (Basel) 12:678, 2021. Pubmed reference: 33946496. DOI: 10.3390/genes12050678.
2020 Konovalova, EN., Romanenkova, OS., Volkova, VV., Kostyunina, OV. :
DNA analysis of the Russian populations of Aberdeen Angus, Hereford and Belgian Blue cattle Arch Anim Breed 63:409-416, 2020. DOI: 10.5194/aab-63-409-2020.
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.

Edit History


  • Created by Imke Tammen2 on 28 Sep 2021
  • Changed by Imke Tammen2 on 28 Sep 2021