OMIA 001505-9940 : Neuronal ceroid lipofuscinosis, 10 in Ovis aries
Note that NCBI Gene lists the CTSD gene in sheep as LOC443060.Breed: Swedish Landrace. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC443060||cathepsin D-like||Ovis aries||21||NC_056074.1 (46088585..46097887)||LOC443060||Homologene, Ensembl, NCBI gene|
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.
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|
|905||Swedish Landrace||Neuronal ceroid lipofuscinosis, 10||LOC443060||missense||Naturally occurring variant||Oar_rambouillet_v1.0||21||g.51583020G>A||c.883G>A||p.(D295N)||published as c.934G>A; protein and cDNA positions in this table based on XP_027815055.1 and XM_027959254.1, respectively||2000||10856224||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.
|2013||Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. :|
|Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009.|
|2000||Tyynelä, J., Sohar, I., Sleat, D.E., Gin, R.M., Donnelly, R.J., Baumann, M., Haltia, M., Lobel, P. :|
|A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration EMBO Journal 19:2786-2792, 2000. Pubmed reference: 10856224. DOI: 10.1093/emboj/19.12.2786.|
|1993||Jarplid, B., Haltia, M. :|
|An Animal Model of the Infantile Type of Neuronal Ceroid- Lipofuscinosis Journal of Inherited Metabolic Disease 16:274-277, 1993. Pubmed reference: 8411979.|
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Sep 2012
- Changed by Frank Nicholas on 20 Aug 2013
- Changed by Frank Nicholas on 12 Dec 2017