A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
نویسندگان
چکیده
منابع مشابه
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of th...
متن کاملLrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)
Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knock-out mouse, ...
متن کاملCongenital stationary night blindness: an animal model.
Electroretinographic studies of myctalopic Appaloosa horses demonstrated photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. The phototopic abnormalities consisted of reduced b-wave amplitudes and slower than normal b-wave implict time. The dark-adapted ERG's consisted of a simple negative potential; t...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2021
ISSN: 1422-0067
DOI: 10.3390/ijms22094424