Spontaneous mutations of the Zpld1 gene in mice cause semicircular canal dysfunction but do not impair gravity receptor or hearing functions

Autor:	Kenneth R. Johnson, Timothy A. Jones, Sherri M. Jones, Cong Tian, Sarath Vijayakumar
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	0301 basic medicine lcsh:Medicine Biology Article Mice 03 medical and health sciences 0302 clinical medicine Utricle Inner ear medicine otorhinolaryngologic diseases Animals Gravity Sensing Evoked potential lcsh:Science Evoked Potentials Crista ampullaris Vestibular system Multidisciplinary Behavior Animal Semicircular canal lcsh:R Membrane Proteins Anatomy Mice Mutant Strains Semicircular Canals Mechanisms of disease 030104 developmental biology medicine.anatomical_structure Auditory brainstem response Mutation lcsh:Q Gene expression Saccule sense organs 030217 neurology & neurosurgery
Zdroj:	Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019) Scientific Reports
ISSN:	2045-2322
DOI:	10.1038/s41598-019-48835-5
Popis:	The cupula is a gelatinous membrane overlying the crista ampullaris of the semicircular canal, important for sensing rotation of the head and critical for normal balance. Recently the zona pellucida like domain containing 1 protein (ZPLD1, also known as cupulin) was identified in the cupula of fish. Here, we describe two new spontaneous mutations in the mouse Zpld1 gene, which were discovered by the circling behavior of mutant mice, an indicator of balance dysfunction. The Zpld1 mutant mice exhibited normal hearing function as assessed by auditory brainstem response (ABR) measurements, and their otolithic organs appeared normal. In the inner ear, Zpld1 mRNA expression was detected only in the hair cells and supporting cells of the crista ampullaris. Normal vestibular sensory evoked potential (VsEP) responses and abnormal vestibulo-ocular reflex (VOR) responses demonstrated that the vestibular dysfunction of the Zpld1 mutant mice is caused by loss of sensory input for rotary head movements (detected by cristae ampullaris) and not by loss of input for linear head translations (detected by maculae of the utricle and saccule). Taken together, these results are consistent with ZPLD1 being an important functional component of the cupula, but not tectorial or otoconial membranes.
Databáze:	OpenAIRE
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