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Article

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.

Investigative ophthalmology & visual science - 1 Jul 2020

Domènech Elena B, Andrés Rosa, López-Iniesta M José, Mirra Serena, García-Arroyo Rocío, Milla Santiago, Sava Florentina, Andilla Jordi, Loza-Álvarez Pablo, de la Villa Pedro, Gonzàlez-Duarte Roser, Marfany Gemma

Abstract excerpt

Purpose: Close to 100 genes cause retinitis pigmentosa, a Mendelian rare disease that affects 1 out of 4000 people worldwide. Mutations in the ceramide kinase-like gene (CERKL) are a prevalent cause of autosomal recessive cause retinitis pigmentosa and cone-rod dystrophy, but the functional role of this gene in the retina has yet to be fully determined. We aimed to generate a mouse model that resembles the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32658961
DOI: 10.1167/iovs.61.8.14
PMCID: PMC7425692

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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