A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

被引：84

作者：

Hardisty-Hughes, Rachel E. ^{[1
]}

Parker, Andrew ^{[1
]}

Brown, Steve D. M. ^{[1
]}

机构：

[1] MRC, Mammalian Genet Unit, Harwell, Berks, England

来源：

NATURE PROTOCOLS | 2010年 / 5卷 / 01期

关键词：

SODIUM-CHANNEL SCN8A; OTITIS-MEDIA; MUTAGENESIS PROGRAM; ACOUSTIC RESPONSE; ENU MUTAGENESIS; INBRED STRAINS; GENETIC-BASIS; MUTATION; MODELS; MICE;

D O I：

10.1038/nprot.2009.204

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe a protocol for the production of mice carrying N-ethyl-N-nitrosourea (ENU) mutations and their screening for auditory and vestibular phenotypes. In comparison with the procedures describing individual phenotyping tests, this protocol integrates a set of tests for the comprehensive determination of the causes of hearing loss. It comprises a primary screen of relatively simple auditory and vestibular tests. A variety of secondary phenotyping protocols are also described for further investigating the deaf and vestibular mutants identified in the primary screen. The screen can be applied to potentially thousands of mutant mice, produced either by ENU or other mutagenesis approaches. Primary screening protocols take no longer than a few minutes, apart from ABR testing which takes upto 3.5 h per mouse. These protocols have been applied for the identification of mouse models of human deafness and are a key component for investigating the genes and genetic pathways involved in hereditary deafness.

引用

页码：177 / 190

页数：14

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