OMIA 000649-9940 : Microphthalmia in Ovis aries |
In other species:
chicken
,
dog
,
pig
,
Eastern wapiti
,
golden hamster
,
water buffalo
,
cattle
,
Campbell's desert hamster
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2010
Cross-species summary:
Abnormal smallness in all dimensions of one or both eyes.
Mapping:
Becker et al. (2010) used the first-generation ovine SNP50 BeadChip to map this disorder to a 2.4 Mb region of chromosome OAE22. This region contains the gene PITX3, mutations in which cause some forms of this disorder in humans.
Molecular basis:
Sequencing of the prime candidate gene PITX3 in affecteds and normals, by Becker et al. (2010), identified a missense mutation (338G>C, R113P) in a conserved region of the gene as being causative.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PITX3 | paired-like homeodomain 3 | Ovis aries | 22 | NC_019479.2 (22022533..22011412) | PITX3 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Texel | Microphthalmia | PITX3 | missense | Oar_v3.1 | 22 | g.22045744G>C | c.338G>C | p.R113P | 2010 | 20084168 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
| 2010 | Becker, D., Tetens, J., Brunner, A., Bürstel, D., Ganter, M., Kijas, J., Drögemüller, C. : | |
| Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. PLoS One 5:e8689, 2010. Pubmed reference: 20084168. DOI: 10.1371/journal.pone.0008689. | ||
| 2007 | Tetens, J., Ganter, M., Müller, G., Drögemüller, C. : | |
| Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18. Invest Ophthalmol Vis Sci 48:3506-15, 2007. Pubmed reference: 17652717. DOI: 10.1167/iovs.07-0041. | ||
| 2005 | [No authors listed] : | |
| [New test for genetically inherited blindness in sheep] Tijdschr Diergeneeskd 130:599, 2005. Pubmed reference: 16238031. | ||
| 2003 | Roe, WD., West, DM., Walshe, MT., Jolly, RD. : | |
| Microphthalmia in Texel lambs. N Z Vet J 51:194-5, 2003. Pubmed reference: 16032324. DOI: 10.1080/00480169.2003.36364. | ||
| van der Linde-Sipman, J.S., van den Ingh, T.S., Vellema, P. : | ||
| Morphology and morphogenesis of hereditary microphthalmia in Texel sheep Journal of Comparative Pathology 128:269-75, 2003. Pubmed reference: 12834610. | ||
| 1990 | Jackson, E.K.M. : | |
| Microphthalmia in Sheep Veterinary Record 126:650 only, 1990. Pubmed reference: 2382377. | ||
| 1984 | König, C.D. : | |
| [Testing of rams. Microphthalmos]. Tijdschr Diergeneeskd 109:257-8, 1984. Pubmed reference: 6369625. | ||
| 1980 | Wagenaar, G. : | |
| [Genetics and latent defects in animals. Microphthalmia in sheep (author's transl)] Tijdschr Diergeneeskd 105:275-81, 1980. Pubmed reference: 7376170. | ||
| van der Mey, GJ., Bos, H. : | ||
| [Genetics and latent defects in animals. II. Microphthalmia in sheep (author's transl)] Tijdschr Diergeneeskd 105:792-5, 1980. Pubmed reference: 7423476. | ||
| 1978 | Arndt, U., Herzog, A., Smidt, D. : | |
| [Description of pathological-anatomical and histological findings in the brain of a sheep with congenital microphthalmia] Dtsch Tierarztl Wochenschr 85:60-1, 1978. Pubmed reference: 342224. | ||
| Arndt, U., Herzog, A., Smidt, D. : | ||
| [Investigations on the optic nerves and brains of microphthalmic sheep. Communication III: report of the brain and the cortical hemispheres (author's transl)] Zuchthygiene 13:38-43, 1978. Pubmed reference: 648734. | ||
| 1961 | Hanset, R. : | |
| Hereditary microphthalmia in Texel sheep Annales de Medecine Veterinaire 105:443-449, 1961. | ||
| 1958 | Zwiep, I.N. : | |
| Congenital blindness in lambs Tijdschrift voor Diergeneeskunde 83:1220-1222, 1958. |
Edit History
- Created by Frank Nicholas on 25 Feb 2010
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 25 Nov 2013