Ontology highlight
ABSTRACT:
SUBMITTER: Das RG
PROVIDER: S-EPMC6775105 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Das Rueben G RG Becker Doreen D Jagannathan Vidhya V Goldstein Orly O Santana Evelyn E Carlin Kendall K Sudharsan Raghavi R Leeb Tosso T Nishizawa Yuji Y Kondo Mineo M Aguirre Gustavo D GD Miyadera Keiko K
Scientific reports 20191002 1
Congenital stationary night blindness (CSNB), in the complete form, is caused by dysfunctions in ON-bipolar cells (ON-BCs) which are secondary neurons of the retina. We describe the first disease causative variant associated with CSNB in the dog. A genome-wide association study using 12 cases and 11 controls from a research colony determined a 4.6 Mb locus on canine chromosome 32. Subsequent whole-genome sequencing identified a 1 bp deletion in LRIT3 segregating with CSNB. The canine mutant LRIT ...[more]