Phenotypic and expression analysis of a novel spontaneous myosin 6 null mutant mouse
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- MOCHIZUKI Eiji
- Department of Bioindustry, Tokyo University of Agriculture
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- OKUMURA Kazuhiro
- Department of Bioindustry, Tokyo University of Agriculture
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- ISHIKAWA Masashi
- Department of Bioindustry, Tokyo University of Agriculture
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- YOSHIMOTO Sachi
- Department of Bioindustry, Tokyo University of Agriculture
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- YAMAGUCHI Junya
- Department of Bioindustry, Tokyo University of Agriculture
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- SEKI Yuta
- Department of Bioindustry, Tokyo University of Agriculture
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- WADA Kenta
- Department of Bioindustry, Tokyo University of Agriculture
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- YOKOHAMA Michinari
- Department of Bioindustry, Tokyo University of Agriculture
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- USHIKI Tatsuo
- Department of Anatomy, Graduate School of Medical and Dental Sciences, Niigata University
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- TOKANO Hisashi
- Department of Otolaryngology, Tokyo Medical and Dental University
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- ISHII Rie
- Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science
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- SHITARA Hiroshi
- Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science
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- TAYA Choji
- Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science
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- KITAMURA Ken
- Department of Otolaryngology, Tokyo Medical and Dental University
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- YONEKAWA Hiromichi
- Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science
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- KIKKAWA Yoshiaki
- Department of Bioindustry, Tokyo University of Agriculture Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science
書誌事項
- タイトル別名
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- Phenotypic and Expression Analysis of a Novel Spontaneous Myosin VI Null Mutant Mouse
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In humans, hearing is a major factor in quality of life. Mouse models are important tools for the discovery of genes responsible for genetic hearing loss, often enabling analysis of the processes that regulate the onset of deafness in humans. Thus far, at least 400 deafness mutants have been discovered in laboratory mouse populations and used in the study of deafness. Here we report the discovery of a new spontaneous recessive Rinshoken shaker/waltzer (rsv) mutant derived from our in-house C57BL/6J stock, which exhibits circling and/or head-tossing behaviour and complete lack of auditory brain response to any sound pressure. The hearing and balance phenotypes are associated with structural defects, in particular, disorganisation and fusion of stereocilia in the inner ear hair cells. Two sets of intersubspecific N2 mice were generated for the positional cloning of the rsv mutation. The mutant locus was mapped to a 4.8-Mb region of chromosome 9, which contains myosin VI (Myo6), a gene responsible for deafness in humans and Snell's waltzer mutation in mice. The rsv mutant showed reduced expressions of Myo6 mRNA and MYO6 protein in the inner ear. Moreover, no immunoreactivity was observed in the cochlear and vestibular hair cells in the rsv mutant mice. We sequenced the genomic region (30,154 bp) of Myo6, including all coding exons, a non-coding exon, UTRs and the Myo6 promoter; however, no mutation was discovered in these regions. We therefore speculate that loss of MYO6 expression might cause shaker/waltzer behaviour and deafness in the rsv mutant; also, loss of MYO6 expression might be the result of mutations in an unidentified regulatory region(s) of the gene.<br>
収録刊行物
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- Experimental Animals
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Experimental Animals 59 (1), 57-71, 2010
公益社団法人 日本実験動物学会
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詳細情報 詳細情報について
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- CRID
- 1390282680021427200
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- NII論文ID
- 10027852619
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- NII書誌ID
- AA11032321
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- ISSN
- 18817122
- 00075124
- 13411357
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- NDL書誌ID
- 10810924
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
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- KAKEN
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- 使用不可