| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○カテゴリ (推奨): |
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| ○学究種別 (推奨): |
| ○組織 (推奨): |
| ○著者 (必須): | 1. | 泰江 章博
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| 2. | (英) Kono Hitomi (日) (読)
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| 3. | (英) Habuta Munenori (日) (読)
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| 4. | (英) Bando Tetsuya (日) (読)
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| 5. | (英) Sato Keita (日) (読)
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| 6. | (英) Inoue Junji (日) (読)
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| 7. | 親泊 政一 ([徳島大学.先端酵素学研究所.重点研究部門])
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| 8. | 野地 澄晴
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| 9. | 田中 栄二 ([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.臨床歯学系.口腔顎顔面矯正学])
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| 10. | 大内 淑代
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| ○題名 (必須): | □ | (英) Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos. (日)
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| ○要約 (任意): | □ | (英) The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein (Cas) system is a rapid gene-targeting technology that does not require embryonic stem cells. To demonstrate dosage effects of the Pax6 gene on eye formation, we generated Pax6-deficient mice with the CRISPR/Cas system. Eyes of founder embryos at embryonic day (E) 16.5 were examined and categorized according to macroscopic phenotype as class 1 (small eye with distinct pigmentation), class 2 (pigmentation without eye globes), or class 3 (no pigmentation and no eyes). Histologically, class 1 eyes were abnormally small in size with lens still attached to the cornea at E16.5. Class 2 eyes had no lens and distorted convoluted retinas. Class 3 eyes had only rudimentary optic vesicle-like tissues or histological anophthalmia. Genotyping of neck tissue cells from the founder embryos revealed somatic mosaicism and allelic complexity for Pax6. Relationships between eye phenotype and genotype were developed. The present results demonstrated that development of the lens from the surface ectoderm requires a higher gene dose of Pax6 than development of the retina from the optic vesicle. We further anticipate that mice with somatic mosaicism in a targeted gene generated by CRISPR/Cas-mediated genome editing will give some insights for understanding the complexity in human congenital diseases that occur in mosaic form. (日)
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| ○誌名 (必須): | □ | Scientific Reports ([Nature Publishing Group])
(eISSN: 2045-2322)
| ○ISSN (任意): | □ | 2045-2322
ISSN: 2045-2322
(eISSN: 2045-2322) Title: Scientific reportsTitle(ISO): Sci RepPublisher: Nature Portfolio (NLM Catalog)
(Scopus)
(CrossRef)
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| ○巻 (必須): | □ | 7
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| ○号 (必須): | □ | 1
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| ○頁 (必須): | □ |
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| ○年月日 (必須): | □ | 西暦 2017年 3月 3日 (平成 29年 3月 3日)
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| ○DOI (任意): | □ | 10.1038/s41598-017-00088-w (→Scopusで検索)
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| ○PMID (任意): | □ | 28246397 (→Scopusで検索)
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| ○機関リポジトリ : | □ | 112365
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| ○備考 (任意): | 1. | (英) PublicationType: Journal Article (日)
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