OMIA:000299-9796 : Dwarfism, generic in Equus caballus (horse)

In other species: white-tufted-ear marmoset , dog , domestic cat , Asiatic elephant , pig , red deer , Northern giraffe , taurine cattle , indicine cattle (zebu) , goat , sheep , rabbit , callipterus cichlid , Angolan giraffe

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000299-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Choudhury, M.P., Wang, Z., Zhu, M., Teng, S., Yan, J., Cao, S., Yi, G., Liu, Y., Liao, Y., Tang, Z. :
Genome-wide detection of copy number variations associated with miniature features in horses. Genes (Basel) 14, 2023. Pubmed reference: 37895283. DOI: 10.3390/genes14101934.
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