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Ubap1l Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor Morphology.

Investigative ophthalmology & visual science - 1 Dec 2025

Wang Yingwei, Zhang Shuhan, Zheng Yuxi, Guo Dongwei, Jiang Yi, Ouyang Jiamin, Sun Wenmin, Li Shiqiang, Xiao Xueshan, Liang LingYi, Yi Zhen, Zhang Qingjiong

Abstract excerpt

Purpose: UBAP1L is a newly discovered gene related to recessive inherited retinal degeneration (IRD) with an unknown pathogenic mechanism. This study aims to investigate whether biallelic pathogenic variants in UBAP1L contribute to the unsolved cases in Chinese IRD families and to explore the impact of the Ubap1l genetic defect in a mouse model. Methods: Next-generation sequencing was used to detect variants in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Mice, Inbred C57BL

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Share to Photoreceptor Cells, Vertebrate

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Source

Open in PubMed Open full text

Identifiers

PMID: 41378939
DOI: 10.1167/iovs.66.15.35
PMCID: PMC12704213

Genes

UBAP1L
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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