2015 Fiscal Year Final Research Report
Identification of causative gene mutation for microphthalmia in rat, and its application for establishment of novel mouse models
Project/Area Number |
26830057
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Laboratory animal science
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Research Institution | Tokyo University of Agriculture |
Principal Investigator |
Wada Kenta 東京農業大学, 生物産業学部, 准教授 (20508113)
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Project Period (FY) |
2014-04-01 – 2016-03-31
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Keywords | 小眼球症 |
Outline of Final Research Achievements |
The Nodai aphakia (NAK/Nokh) rat is one of the promising model for human microphthalmia which exhibits complete lack of the eye. We have reported that intercross progenies between NAK rat and other strains showed heterogeneous phenotypes as bilateral or unilateral anophthalmia or microthalmia, and have suggested that major causative gene mutation is in chromosome 16 and 2. We conducted RNA-seq and WGS analysis in order to identify gene mutations associated with NAK phenotype, and detected four candidate genes. One of them, we determined cDNA sequence, and identified NAK specific missense mutation. Therefore, we suggested that a missense mutation of this gene is one of causative gene mutation associate with NAK phenotype. In addition, we revealed that several marker protein for retinal development decreased in retina of NAK. Therefore, we suggested that loss of NAK embryonic eye is caused by defects of retinal development.
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Free Research Field |
実験動物学
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