OMIA:000168-10141 : Cataract, generic in Cavia porcellus (domestic guinea pig) |
In other species: chicken , grivet , crab-eating macaque , dog , giant panda , domestic ferret , domestic cat , lion , ass (donkey) , horse , taurine cattle , sheep , rabbit , degu , thirteen-lined ground squirrel , bald eagle , green monkey
Categories: Vision / eye phene
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1992
Cross-species summary: Opacity of the lens of the eye.
Molecular basis: Rodriguez et al. (1992) reported a likely causal variant as "a 102-bp deletion towards the 3' end of the coding region [of the zeta crystallin gene]. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| Cryz | crystallin, zeta (quinone reductase) | Cavia porcellus | NW_026947484.1 (156084213..156105563) | Cryz | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1176 | Cataract | Cryz | splicing | Naturally occurring variant | "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) | 1992 | 1390943 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000168-10141: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 1997 | Bettelheim, F.A., Churchill, A.C., Zigler, J.S. : |
| On the nature of hereditary cataract in strain 13/N guinea pigs Current Eye Research 16:917-924, 1997. Pubmed reference: 9288453. | |
| 1992 | Rao, P.V., Krishna, C.M., Zigler, J.S. : |
| Identification and characterization of the enzymatic activity of zeta-crystallin from guinea pig lens. A novel NADPH:quinone oxidoreductase. J Biol Chem 267:96-102, 1992. Pubmed reference: 1370456. | |
| Rao, P.V., Zigler, J.S. : | |
| Mutant zeta-crystallin from guinea-pig hereditary cataracts has altered structural and enzymatic properties. Exp Eye Res 54:627-30, 1992. Pubmed reference: 1623948. DOI: 10.1016/0014-4835(92)90142-f. | |
| Rodriguez, I.R., Gonzalez, P., Zigler, J.S., Borrás, T. : | |
| A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. Biochim Biophys Acta 1180:44-52, 1992. Pubmed reference: 1390943. DOI: 10.1016/0925-4439(92)90025-i. | |
| 1991 | Tripathi, B.J., Tripathi, R.C., Borisuth, N.S., Dhaliwal, R., Dhaliwal, D. : |
| Rodent models of congenital and hereditary cataract in man. Lens Eye Toxic Res 8:373-413, 1991. Pubmed reference: 1958636. | |
| 1990 | Borrás, T., Jörnvall, H., Rodokanaki, A., Gonzalez, P., Rodriguez, I., Hernandez-Calzadilla, C. : |
| The transcripts of zeta-crystallin, a lens protein related to the alcohol dehydrogenase family, are altered in a guinea-pig hereditary cataract. Exp Eye Res 50:729-35, 1990. Pubmed reference: 1695576. DOI: 10.1016/0014-4835(90)90122-b. | |
| Huang, Q.L., Du, X.Y., Stone, S.H., Amsbaugh, D.F., Datiles, M., Hu, T.S., Zigler, J.S. : | |
| Association of hereditary cataracts in strain 13/N guinea-pigs with mutation of the gene for zeta-crystallin. Exp Eye Res 50:317-25, 1990. Pubmed reference: 2318275. DOI: 10.1016/0014-4835(90)90217-i. | |
| 1984 | Amsbaugh, D.F., Stone, S.H. : |
| Autosomal dominant congenital nuclear cataracts in strain 13/N guinea pigs. J Hered 75:55-8, 1984. Pubmed reference: 6538586. DOI: 10.1093/oxfordjournals.jhered.a109865. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 31 Mar 2020