OMIA 002111-9913 : Cataract, recessive, CPAMD8-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CPAMD8||C3 and PZP-like, alpha-2-macroglobulin domain containing 8||Bos taurus||7||NC_037334.1 (6073292..6174094)||CPAMD8||Homologene, Ensembl, NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|358||Red Holstein Friesian||Cataract, recessive, CPAMD8-related||CPAMD8||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||7||g.6073556C>T||c.220C>T||p.(Q74*)||2017||28683140|
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.
|2019||Braun, M., Struck, A.K., Reinartz, S., Heppelmann, M., Rehage, J., Eule, J.C., Ciurkiewicz, M., Beineke, A., Metzger, J., Distl, O. :|
|Study of congenital Morgagnian cataracts in Holstein calves. PLoS One 14:e0226823, 2019. Pubmed reference: 31877171. DOI: 10.1371/journal.pone.0226823.|
|2017||Hollmann, A.K., Dammann, I., Wemheuer, W.M., Wemheuer, W.E., Chilla, A., Tipold, A., Schulz-Schaeffer, W.J., Beck, J., Schütz, E., Brenig, B. :|
|Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development. PLoS One 12:e0180665, 2017. Pubmed reference: 28683140. DOI: 10.1371/journal.pone.0180665.|
- Created by Frank Nicholas on 07 Jul 2017
- Changed by Frank Nicholas on 07 Jul 2017
- Changed by Frank Nicholas on 28 Jan 2020