OMIA 000081-9796 : Atlanto occipital fusion in Equus caballus |
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 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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