OMIA 001936-9913 : Cataract, recessive, NID1-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NID1||nidogen 1||Bos taurus||28||NC_037355.1 (8784219..8687268)||NID1||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|
|679||Romagnola||Cataract, recessive, Romagnola||NID1||deletion, gross (>20)||Naturally occurring variant||28||"an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del)"||2014||25347398|
|2014||Murgiano, L., Jagannathan, V., Calderoni, V., Joechler, M., Gentile, A., Drögemüller, C. :|
|Looking the Cow in the Eye: Deletion in the NID1 Gene Is Associated with Recessive Inherited Cataract in Romagnola Cattle. PLoS One 9:e110628, 2014. Pubmed reference: 25347398. DOI: 10.1371/journal.pone.0110628.|
- Created by Frank Nicholas on 29 Oct 2014
- Changed by Frank Nicholas on 29 Oct 2014