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Article

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock-In Model for Human DFNX1 Deafness.

Clinical genetics - 1 Nov 2025

Yan Denise, Grati M'hamed, Mittal Rahul, Quan Yi-Zhou, Du Wan, Chen Zheng-Yi, Liu Xue Zhong

Abstract excerpt

Variants in the phosphoribosylpyrophosphate synthetase (PRPS1) gene have been shown to cause X-linked nonsyndromic hearing loss (HL) (DFNX1) in humans. A c.259G>A transition in PRPS1, which leads to p.Ala87Thr, has been demonstrated to cause HL. The aim of this study was to generate a transgenic knock-in (KI) mouse with the Prps1 missense variant p.Ala87Thr and to study its impact on the auditory phenotype....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mice, Inbred C57BL

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Source

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Identifiers

PMID: 40494824
DOI: 10.1111/cge.14776
PMCID: PMC12501748

Genes

PRPS1

Variants

Provenance

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

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