OMIA:000337-9940 : Entropion in Ovis aries (sheep)

In other species: dog , domestic cat , horse , pig , taurine cattle , goat , rabbit

Categories: Vision / eye phene

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Cross-species summary: Inversion (turning inward) of the margin of the eyelid.

Mapping: From a GWAS on "998 Columbia, Polypay, and Rambouillet sheep [each] genotyped with 50,000 SNP markers", Mousel et al. (2015) identified strong associations in SLC2A9 (GLUT9) on chromosome OVA6 and near NLN on chromosome OVA16. Hirter et al. (2020):"A GWAS using 150 SWA [Swiss White Alpine] sheep (90 affected lambs and 60 controls), based on 600k SNP data, revealed a genome‐wide significant signal on chromosome 15. The 0.2 Mb associated region contains functional candidate genes, SMTNL1 and CTNND1. Pathogenic variants in human CTNND1 cause blepharocheilodontic syndrome 2, a rare disorder including eyelid anomalies, and SMTNL1 regulates contraction and relaxation of skeletal and smooth muscle. WGS of a single entropion‐affected lamb revealed two private missense variants in SMTNL1 and CTNND1. . . . Subsequent genotyping of both variants in 231 phenotyped SWA sheep [discounted both variants, leading the authors to] "propose that these protein‐changing variants are unlikely to explain the phenotype . . . [and to] conclude that entropion represents a more complex disease caused by different non‐coding regulatory variants".

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000337-9940: 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.

2020 Hirter, N., Letko, A., Häfliger, I.M., Becker, D., Greber, D., Drögemüller, C. :
A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. Anim Genet 51:278-283, 2020. Pubmed reference: 31945208. DOI: 10.1111/age.12903.
2015 Mousel, M.R., Reynolds, J.O., White, S.N. :
Genome-Wide Association Identifies SLC2A9 and NLN Gene Regions as Associated with Entropion in Domestic Sheep. PLoS One 10:e0128909, 2015. Pubmed reference: 26098909. DOI: 10.1371/journal.pone.0128909.
2013 Greber, D., Doherr, M., Drögemüller, C., Steiner, A. :
Occurrence of congenital disorders in Swiss sheep. Acta Vet Scand 55:27, 2013. Pubmed reference: 23521894. DOI: 10.1186/1751-0147-55-27.
2001 Yeruham, I., Perl, S. :
Case report: entropion and periorbital dermatitis in an Assaf ram. Berl Munch Tierarztl Wochenschr 114:173, 2001. Pubmed reference: 11413708.
1996 Sakul, H., Kellom, T.R. :
Heritability of entropion in several US sheep breeds Small Ruminant Research 23:187-190, 1996.
Sakul, H., Snowder, G.D., Hemenway, K.J. :
Evaluation of techniques for correction of entropion in lambs Small Ruminant Research 20:187-191, 1996.
1995 Green, L.E., Berriatua, E., Morgan, K.L. :
The prevalence and risk factors for congenital entropion in intensively reared lambs in south west England Preventive Veterinary Medicine 24:15-21, 1995.
1991 [No authors listed] :
Treatment of entropion in lambs. Vet Rec 129:271-2, 1991. Pubmed reference: 1962395.
Green, L. :
Treatment of entropion in lambs. Vet Rec 129:128, 1991. Pubmed reference: 1926738. DOI: 10.1136/vr.129.6.128.
1990 Basrur, P.K., Yadav, B.R. :
Genetic diseases of sheep and goats. Vet Clin North Am Food Anim Pract 6:779-802, 1990. Pubmed reference: 2245374. DOI: 10.1016/s0749-0720(15)30846-x.
1989 Lamprecht, H., Pfeiffer, A. :
[Entropion in newborn lambs]. Berl Munch Tierarztl Wochenschr 102:303-10, 1989. Pubmed reference: 2803214.
1986 Taylor, M., Catchpole, J. :
Entropion in lambs. Vet Rec 119:187, 1986. Pubmed reference: 3776073.
Taylor, M., Catchpole, J. :
Incidence of entropion in lambs from two ewe flocks put to the same rams. Vet Rec 118:361, 1986. Pubmed reference: 3705384.
1984 Eales, FA., Small, J., Robinson, JJ., Gebbie, C. :
Correction of entropion in newborn lambs. Vet Rec 114:193, 1984. Pubmed reference: 6710834.
Formston, C. :
Entropion in lambs. Vet Rec 114:363, 1984. Pubmed reference: 6719798.
Lamprecht, H., Pfeiffer, A. :
Entropion in newborn lambs. Vet Rec 114:251, 1984. Pubmed reference: 6730237. DOI: 10.1136/vr.114.10.251-a.
1981 Rook, JS., Cortese, V. :
Repair of entropion in the lamb. Vet Med Small Anim Clin 76:571-4, 1981. Pubmed reference: 6908782.
1980 Rasmussen, RE. :
Repair of entropion in lambs. Mod Vet Pract 61:943-4, 1980. Pubmed reference: 7464771.
1977 van Nie, GJ. :
[Entropion in newborn lambs. A simple method of treatment (author's transl)]. Tijdschr Diergeneeskd 102:1093-6, 1977. Pubmed reference: 906003.
1975 Saperstein, G., Leipold, HW., Dennis, SM. :
Congenital defects of sheep. J Am Vet Med Assoc 167:314-22, 1975. Pubmed reference: 238924.
1974 Dennis, SM. :
A survey of congenital defects of sheep. Vet Rec 95:488-90, 1974. Pubmed reference: 4155810. DOI: 10.1136/vr.95.21.488.
Zájer, J., Kégl, T., Somogyvári, K. :
Mass incidence of entropion in lambs. Acta Vet Acad Sci Hung 24:437-41, 1974. Pubmed reference: 4466359.
1970 Gelatt, K.N. :
Congenital entropion in a Hampshire lamb Veterinary Medicine and Small Animal Clinician 65:761-764, 1970. Pubmed reference: 5201444.
1969 Shvyrev, GI. :
[Treatment of eyelid entropion in merino lambs]. Veterinariia 46:63, 1969. Pubmed reference: 5393768.
1963 Crowley, J.P., McGloughlin, P. :
Hereditary entropion in lambs Veterinary Record 75:1104-1106, 1963.
1962 Warwick, BL., Berry, RO. :
Infantile entropion in sheep J Hered 53:10-1, 1962. Pubmed reference: 13999021.
1954 Littlejohn, A.I. :
Entropion in newborn lambs Veterinary Record 66:211-214, 1954.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 13 Jun 2018
  • Changed by Frank Nicholas on 25 Jan 2020