Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.

ABSTRACT: Purpose:Recessive mutations in the human IQCB1/NPHP5 gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). Nphp5-knockout mice develop LCA without nephronophthisis. Mutant rods rapidly degenerate while mutant cones survive for months. The purpose of this study was to reinitiate cone ciliogenesis in a Nphp5 -/-; Nrl -/- mouse with viral expression of full-length NPHP5 and rescue function. Methods:Nphp5 -/- mice were mated with Nrl -/- mice to generate Nphp5-/-; Nrl-/- double-knockouts. Nphp5-/-; Nrl-/- mice and Nphp5+/-; Nrl-/- controls were phenotyped with confocal microscopy from postnatal day 10 (P10) until 6 months of age. Nphp5-/-; Nrl-/- mice and Nphp5+/-; Nrl-/- controls were injected at P15 with self

SUBMITTER: Hanke-Gogokhia C 

PROVIDER: S-EPMC6334983 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature