OMIA 000168-9940 : Cataract, generic in Ovis aries

In other species: domestic cat , cattle , dog , horse , domestic ferret , chicken , domestic guinea pig , lion , rabbit , crab-eating macaque , degu , bald eagle ,

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: no

Cross-species summary: Opacity of the lens of the eye.

Species-specific name: Ovine Heritable Cataract (OHC)

History: This disorder was first described in two papers by Brooks et al. (1982).

Mapping: A genome scan conducted by Wilson et al. (2012) mapped the disorder to "between 131.1 and 131.8 cM from the centromere" on chromosome OAR6.

Molecular basis: A positional candidate gene (NUDT9) was shown to not contain the causative mutation (Wilson et al., 2012).

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.
2012 Morton, J.D., Lee, H.Y., McDermott, J.D., Robertson, L.J., Bickerstaffe, R., Jones, M.A., Coxon, J.M., Abell, A.D. :
A macrocyclic calpain inhibitor slows the development of inherited cortical cataracts in a sheep model. Invest Ophthalmol Vis Sci :, 2012. Pubmed reference: 23211821. DOI: 10.1167/iovs.12-11088.
Wilson, G.R., Morton, J.D., Palmer, D.N., McEwan, J.C., Gately, K., Anderson, R.M., Dodds, K.G. :
The locus for an inherited cataract in sheep maps to ovine chromosome 6. Mol Vis 18:1384-94, 2012. Pubmed reference: 22690116.
2008 Lee, H.Y., Morton, J.D., Robertson, L.J., McDermott, J.D., Bickerstaffe, R., Abell, A.D., Jones, M.A., Mehrtens, J.M., Coxon, J.M. :
Evaluation of a novel calpain inhibitor as a treatment for cataract. Clin Experiment Ophthalmol 36:852-60, 2008. Pubmed reference: 19278481. DOI: 10.1111/j.1442-9071.2009.01925.x.
2005 Robertson, L.J., Morton, J.D., Yamaguchi, M., Bickerstaffe, R., Shearer, T.R., Azuma, M. :
Calpain may contribute to hereditary cataract formation in sheep. Invest Ophthalmol Vis Sci 46:4634-40, 2005. Pubmed reference: 16303960. DOI: 10.1167/iovs.04-1291.
1984 Gelatt, KN., Das, ND. :
Animal models for inherited cataracts: a review. Curr Eye Res 3:765-78, 1984. Pubmed reference: 6734258.
1982 Brooks, H.V., Jolly, R.D., Paterson, C.A. :
The pathology of an inherited cataract of sheep. Curr Eye Res 2:625-32, 1982. Pubmed reference: 7184716.
Brooks, H.V., Jolly, R.D., West, D.M., Bruere, A.N. :
An inherited cataract in New Zealand Romney sheep. N Z Vet J 30:113-4, 1982. Pubmed reference: 16030889. DOI: 10.1080/00480169.1982.34903.

Edit History


  • Created by Frank Nicholas on 19 Nov 2005
  • Changed by Frank Nicholas on 14 Jun 2012