OMIA 001486-9615 : Night blindness, congenital stationary, LRIT3-related in Canis lupus familiaris
Das et al. (2019): "whole-genome sequencing identified a 1 bp deletion in LRIT3 segregating with CSNB [in the same Beagle colony as reported by Kondo et al. (2015)]. The canine mutant LRIT3 gives rise to a truncated protein with unaltered subcellular expression in vitro"Clinical features: Kondo et al. (2015) reported "Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans." Breed: Beagle. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LRIT3||leucine-rich repeat, immunoglobulin-like and transmembrane domains 3||Canis lupus familiaris||32||NC_051836.1 (30245558..30265027)||LRIT3||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.
|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|
|Beagle||Night blindness, congenital stationary, LRIT3-related||LRIT3||deletion, small (<=20)||CanFam3.1||32||g.30,038,862_30,038,863delG||c.762_763delG||p.(249*)||2019||31578364|
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.
|2020||Switonski, M. :|
|Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8.|
|2019||Das, R.G., Becker, D., Jagannathan, V., Goldstein, O., Santana, E., Carlin, K., Sudharsan, R., Leeb, T., Nishizawa, Y., Kondo, M., Aguirre, G.D., Miyadera, K. :|
|Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Sci Rep 9:14166, 2019. Pubmed reference: 31578364. DOI: 10.1038/s41598-019-50573-7.|
|2018||Oh, A., Loew, E.R., Foster, M.L., Davidson, M.G., English, R.V., Gervais, K.J., Herring, I.P., Mowat, F.M. :|
|Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs? Doc Ophthalmol :, 2018. Pubmed reference: 30051304. DOI: 10.1007/s10633-018-9653-y.|
|2015||Kondo, M., Das, G., Imai, R., Santana, E., Nakashita, T., Imawaka, M., Ueda, K., Ohtsuka, H., Sakai, K., Aihara, T., Kato, K., Sugimoto, M., Ueno, S., Nishizawa, Y., Aguirre, G.D., Miyadera, K. :|
|A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. PLoS One 10:e0137072, 2015. Pubmed reference: 26368928. DOI: 10.1371/journal.pone.0137072.|
- Created by Frank Nicholas on 20 Jan 2016
- Changed by Frank Nicholas on 20 Jan 2016
- Changed by Frank Nicholas on 30 Oct 2020