OMIA 000081-9796 : Atlanto occipital fusion in Equus caballus |
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:
Arabian.
Associated gene:
| 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 |
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 required column headers
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arabian | Atlanto occipital fusion | HOXD3 | deletion, gross (>20) | "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 |
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.
| 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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 26 Jan 2017