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OMIA:000299-9796 : Dwarfism, generic in Equus caballus

In other species: domestic cat , cattle , dog , goat , pig , rabbit , sheep , giraffe , Angolan giraffe , white-tufted-ear marmoset , red deer , Asiatic elephant ,

Categories: Skeleton phene (incl. short stature & teeth)

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."

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.

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 .

Edit History


  • 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