OMIA:001903-9940 : Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in Ovis aries (sheep)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
History: This disorder was first reported by Dantas et al. (2013)
Inheritance: Dantas et al. (2013) mentioned the possibility of autosomal incompletely dominant inheritance but no supporting data were provided.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: As reported by Dantas et al. (2013), "Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal."
Prevalence: As reported by Dantas et al. (2013), " In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed".
Cabugi, Brazil (Sheep) (VBO_0016875).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|2013||Dantas, F.P., Medeiros, G.X., Figueiredo, A.P., Thompson, K., Riet-Correa, F. :|
|Skeletal Dysplasia with Craniofacial Deformity and Disproportionate Dwarfism in Hair Sheep of Northeastern Brazil. J Comp Pathol , 2013. Pubmed reference: 24447571. DOI: 10.1016/j.jcpa.2013.11.208.|
- Created by Frank Nicholas on 25 Jan 2014
- Changed by Frank Nicholas on 25 Jan 2014
- Changed by Frank Nicholas on 29 Jan 2014