OMIA:002443-9913 : Osteopetrosis, SLC4A2-related in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 109280 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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 (Cattle) (VBO_0000350).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 (113636353..113651449) | SLC4A2 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 647 | Angus (Cattle) Hereford (Cattle) Holstein (black and white) (Cattle) Simmental (Cattle) | 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) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002443-9913: 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.
| 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