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Animal Bioresource in Japan

.: Home > Animal Bioresource in Japan > 2011 > Volume 60 Number 1 > Lin XU1), Zixing WANG2), Xiwen XIONG2), Xingxing GU2), Xiang GAO2) and Xia GAO1)

Identification of a Novel Point Mutation of Mouse Atp2b2 Induced by N-Ethyl-N-Nitrosourea Mutagenesis

Lin XU1), Zixing WANG2), Xiwen XIONG2), Xingxing GU2), Xiang GAO2) and Xia GAO1)
1) Department of Otolaryngology and Head & Neck Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School 2) MOE Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Nanjing University
Abstract :

N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is an important approach in the study of gene function and the establishment of human disease models. Here we report an ENU-induced mutation, Elfin, as a mouse model with hearing loss. Homozygous mutants were deaf and displayed severe ataxia, while heterozygous mice had a significant hearing loss. Histological analysis of the inner ear revealed that Elfin had progressive degeneration of the organ of Corti, spiral ganglion cells and an absence of otoconia in the vestibular system. The new mutation was mapped to chromosome 6 between microsatellite markers D6Mit39 and D6Mit254, where the Ca2+-ATPase type 2 (Atp2b2) gene resides. Sequence analysis revealed a unique T-to-A transition mutation at amino acid 655 resulting in Ile-to-Asn substitution. These results for the Elfin mutant confirm the role of ATP2B2 in balance, hearing and formation of otoconia and suggest it may serve as a new model of human hereditary hearing loss.

Keywords :
Atp2b2, auditory brainstem responses (ABR), cochlea, Elfin, ENU mutagenesis

Date Deposited : 21 Jun 2011 11:23

Last Modified : 21 Jun 2011 11:23

Official URL: http://www.jstage.jst.go.jp/browse/expanim/60/1/_contents

Volume 60, Number 1, - 2011

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