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
,
,
giant panda
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., 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. | ||
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. |
Edit History
- Created by Frank Nicholas on 19 Nov 2005
- Changed by Frank Nicholas on 14 Jun 2012