OMIA 002017-9685 : Glaucoma 3, primary congenital in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LTBP2||latent transforming growth factor beta binding protein 2||Felis catus||B3||NC_058373.1 (119515223..119408963)||LTBP2||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|
|610||Glaucoma 3, primary congenita||LTBP2||duplication||Naturally occurring variant||Felis_catus_9.0||B3||g.121929604_121929607dup||c.1449_1452dup||p.(A485Gfs)||ENSFCAT00000064963.2; ENSFCAP00000046761.2; published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5]||2016||27149523||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2016||Kuehn, M.H., Lipsett, K.A., Menotti-Raymond, M., Whitmore, S.S., Scheetz, T.E., David, V.A., O'Brien, S.J., Zhao, Z., Jens, J.K., Snella, E.M., Ellinwood, N.M., McLellan, G.J. :|
|A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One 11:e0154412, 2016. Pubmed reference: 27149523. DOI: 10.1371/journal.pone.0154412.|
|Kuehn, M.H., Lipsett, K.A., Menotti-Raymond, M., Whitmore, S.S., Scheetz, T.E., David, V.A., O'Brien, S.J., Zhao, Z., Jens, J.K., Snella, E.M., Ellinwood, N.M., McLellan, G.J. :|
|Correction: A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One 11:e0161517, 2016. Pubmed reference: 27537365. DOI: 10.1371/journal.pone.0161517.|
|2012||Schallek, J.B., McLellan, G.J., Viswanathan, S., Ts'o, D.Y. :|
|Retinal intrinsic optical signals in a cat model of primary congenital glaucoma. Invest Ophthalmol Vis Sci 53:1971-81, 2012. Pubmed reference: 22395886. DOI: 10.1167/iovs.11-8299.|
|2011||Rutz-Mendicino, M.M., Snella, E.M., Jens, J.K., Gandolfi, B., Carlson, S.A., Kuehn, M.H., McLellan, G.J., Ellinwood, N.M. :|
|Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony. Comp Med 61:251-7, 2011. Pubmed reference: 21819695.|
|1995||McLellan, G.J., Betts, D.M., Sigle, K., Grozdanic, S. :|
|Congenital glaucoma in the Siamese cat—a novel spontaneous animal model for glaucoma research (abstract) Investigative Ophthalmology & Visual Science 46:134 only, 1995.|
- Created by Frank Nicholas on 27 May 2016
- Changed by Frank Nicholas on 27 May 2016