OMIA:000081-9796 : Atlanto occipital fusion in Equus caballus
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 142980 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: Also called occipitoatlantoaxial malformation (OAAM)
Molecular basis: Bordbari et al. (2017): "a 2.7-kb deletion located 4.4 kb downstream of the end of HOXD4 and 8.2 kb upstream of the start of HOXD3. A genotyping assay revealed that both parents of [the affected horse] OAAM1 were heterozygous for the deletion. Additional genotyping identified two of 162 heterozygote Arabians, and the deletion was not present in 371 horses of other breeds"
Breed: Arab (Horse) (VBO_0000905).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HOXD3||homeobox D3||Equus caballus||18||NC_009161.3 (54654561..54667180)||HOXD3||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|691||Arab (Horse)||Atlanto occipital fusion||HOXD3||deletion, gross (>20)||Naturally occurring variant||18||"a 2.7-kb deletion located 4.4 kb downstream of the end of HOXD4 and 8.2 kb upstream of the start of HOXD3."||2017||28111759|
Cite this entry
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.
|2017||Bordbari, M.H., Penedo, M.C., Aleman, M., Valberg, S.J., Mickelson, J., Finno, C.J. :|
|Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation. Anim Genet :, 2017. Pubmed reference: 28111759 . DOI: 10.1111/age.12531.|
|2007||Bell, S., Detweiler, D., Benak, J., Pusterla, N. :|
|What is your diagnosis? Occipitoatlantoaxial malformation. J Am Vet Med Assoc 231:1033-4, 2007. Pubmed reference: 17916027 . DOI: 10.2460/javma.231.7.1033.|
|1989||de Lahunta, A., Hatfield, C., Dietz, A. :|
|Occipitoatlantoaxial malformation with duplication of the atlas and axis in a half Arabian foal. Cornell Vet 79:185-93, 1989. Pubmed reference: 2924582 .|
|1986||Watson, A.G., Mayhew, I.G. :|
|Familial congenital occipitoatlantoaxial malformation (OAAM) in the Arabian horse. Spine (Phila Pa 1976) 11:334-9, 1986. Pubmed reference: 3750063 .|
|1985||Wilson, W.D., Hughes, S.J., Ghoshal, N.G., McNeel, S.V. :|
|Occipitoatlantoaxial malformation in two non-Arabian horses. J Am Vet Med Assoc 187:36-40, 1985. Pubmed reference: 4019299 .|
|1978||Mayhew, I.G., Watson, A.G., Heissan, J.A. :|
|Congenital occipitoatlantoaxial malformations in the horse. Equine Vet J 10:103-13, 1978. Pubmed reference: 565704 .|
|1974||Leipoid, H.W., Brandt, G.W., Guffy, M., Blauch, B. :|
|Congenital atlanto-occipital fusion in a foal. Vet Med Small Anim Clin 69:1312-6, 1974. Pubmed reference: 4496765 .|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 26 Jan 2017