OMIA 000168-10141 : Cataract, generic in Cavia porcellus

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: 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 - no genomic information (-..-) Cryz Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
Cataract Cryz splicing "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

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