Generation and characterization of a P2rx2 V60L mouse model for DFNA41

Xiaoya Chen, Clemer Abad, Zheng Yi Chen, Juan I. Young, Channabasavaiah B. Gurumurthy, Katherina Walz, Xue Zhong Liu

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation was previously identified in two unrelated Chinese families, as the cause of human DFNA41, a form of dominant, early-onset and progressive sensorineural hearing loss. We generated and characterized a knock-in mouse model based on human p.V60L mutation that recapitulates the human phenotype. Heterozygous KI mice started to exhibit hearing loss at 21-day-old and progressed to deafness by 6-month-old. Vestibular dysfunction was also observed in mutant mice. Abnormal morphology of the inner hair cells and ribbon synapses was progressively observed in KI animals suggesting that P2rx2 plays a role in the membrane spatial location of the ribbon synapses. These results suggest that P2rx2 is essential for acoustic information transfer, which can be the molecular mechanism related to hearing loss.

Original languageEnglish (US)
JournalHuman Molecular Genetics
Issue number11
StatePublished - Jun 1 2021

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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