OMIA 000299-9796 : Dwarfism, generic in Equus caballus
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Molecular basis: Mendoza et al. (2020) "report the first equine case of a complex unbalanced X-autosome rearrangement in a healthy but short in stature Thoroughbred mare. Studies of about 200 cells by chromosome banding and FISH revealed an abnormal 2n = 63,X,der(X;16) karyotype with a large dicentric derivative chromosome (der). The der was comprised of normal Xp material, a palindromic duplication of Xq12q21, and a translocation of chromosome 16 to the inverted Xq12q21 segment by the centromere, whereas the distal Xq22q29 was deleted from the der."
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.
|2020||Mendoza, M.N., Schalnus, S.A., Thomson, B., Bellone, R.R., Juras, R., Raudsepp, T. :|
|Novel complex unbalanced dicentric X-Autosome rearrangement in a Thoroughbred mare with a mild effect on the phenotype. Cytogenet Genome Res :1-13, 2020. Pubmed reference: 33152736. DOI: 10.1159/000511236.|
|2018||Metzger, J., Rau, J., Naccache, F., Bas Conn, L., Lindgren, G., Distl, O. :|
|Genome data uncover four synergistic key regulators for extremely small body size in horses. BMC Genomics 19:492, 2018. Pubmed reference: 29940849. DOI: 10.1186/s12864-018-4877-5.|
|2007||Hatfield, CL., Riley, CB. :|
|Management of airway difficulties during induction of general anesthesia in an American miniature horse with dwarfism. Can Vet J 48:188-91, 2007. Pubmed reference: 1626399.|
|1997||Pellegrini, M.G., Corda, E.M., Manca, L., Olianas, A., Sanna, M.T., Fais, A., Masala, B. :|
|The hemoglobin polymorphism of the Sardinian wild dwarf horse and the oxygen binding properties of the four different horse hemoglobins. Ital J Biochem 46:7-14, 1997. Pubmed reference: 9247845.|
- Created by Frank Nicholas on 12 Feb 2008
- Changed by Frank Nicholas on 05 Aug 2013
- Changed by Frank Nicholas on 07 Dec 2013
- Changed by Frank Nicholas on 31 Oct 2016
- Changed by Imke Tammen2 on 30 Nov 2020