Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

Purpose: Pathogenic variants in FAM161A are the most common cause of retinitis pigmentosa in Israel. Two founder pathogenic variants explain the vast majority of cases of Jewish origin, 1 being a nonsense variant (p.Arg523∗). The aim of this study was to generate a knock-in (KI) mouse model harborin...

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Bibliographic Details
Main Authors: Chen Matsevich, MSc, Prakadeeswari Gopalakrishnan, PhD, Alexey Obolensky, MD, PhD, Eyal Banin, MD, PhD, Dror Sharon, PhD, Avigail Beryozkin, PhD
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Ophthalmology Science
Subjects:
Knock-in mouse model
Fam161a gene
Retinal degeneration
Nonsense pathogenic variant
Disease course
Online Access:http://www.sciencedirect.com/science/article/pii/S266691452200118X

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http://www.sciencedirect.com/science/article/pii/S266691452200118X

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