Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.
Biochem Biophys Res Commun
; 532(4): 675-681, 2020 11 19.
Article
en En
| MEDLINE
| ID: mdl-32917362
ABSTRACT
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.
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Texto completo:
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Banco de datos:
MEDLINE
Asunto principal:
Proteínas
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Modelos Animales de Enfermedad
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Pérdida Auditiva Sensorineural
Límite:
Animals
Idioma:
En
Año:
2020
Tipo del documento:
Article