| First Author | Cheng YF | Year | 2020 |
| Journal | Biochem Biophys Res Commun | Volume | 532 |
| Issue | 4 | Pages | 675-681 |
| PubMed ID | 32917362 | Mgi Jnum | J:332624 |
| Mgi Id | MGI:6713449 | Doi | 10.1016/j.bbrc.2020.07.101 |
| Citation | Cheng YF, et al. (2020) Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation. Biochem Biophys Res Commun 532(4):675-681 |
| abstractText | Hearing loss is the most prevalent hereditary sensory disorder in children. Approximately 2 in 1000 infants are affected by genetic hearing loss. The PJVK gene, which encodes the pejvakin protein, has been linked to autosomal recessive non-syndromic hearing loss DFNB59. Previous clinical studies have revealed that PJVK mutations might be associated with a wide spectrum of auditory manifestations, ranging from hearing loss of pure cochlear origin to that involving the retrocochlear central auditory pathway. The phenotypic variety makes the pathogenesis of this disease difficult to determine. Similarly, mouse models carrying different Pjvk defects show phenotypic variability and inconsistency. In this study, we generated a knockin mouse model carrying the c.874G > A (p.G292R) variant to model and investigate the auditory and vestibular phenotypes of DFNB59. |
