論文 - 詳細
| RRC ID | 35938 |
|---|---|
| 著者 | Mizuno S, Takami K, Daitoku Y, Tanimoto Y, Dinh TT, Mizuno-Iijima S, Hasegawa Y, Takahashi S, Sugiyama F, Yagami K. |
| タイトル | Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation. |
| ジャーナル | Sci Rep |
| Abstract |
We found a novel spontaneous mouse mutant with depigmentation in the ventral body, which we called White Spotting (WS) mouse. Genetic investigation revealed deletion of a > 1.2-Mb genomic region containing nine genes (Kit, Kdr, Srd5a3, Tmeme165, Clock, Pdcl2, Nmu, Exoc1, and Cep135). We designated this mutant allele Kit(WS). Interestingly, homozygous mutants (Kit(WS/WS)) showed a peri-implantation lethal phenotype. Expression analyses of these nine genes in blastocysts suggested that Exoc1 was a prime candidate for this phenotype. We produced Exoc1 knockout mice, and the same peri-implantation lethal phenotype was seen in Exoc1(-/-) embryos. In addition, the polygenic effect without Exoc1 was investigated in genome-edited Kit(WE) mice carrying the Mb-scale deletion induced by the CRISPR/Cas9 system. As Kit(WE/WE) embryos did not exhibit the abnormal phenotype, which was seen in Kit(WS/WS). We concluded that peri-implantation lethality in Kit(WS/WS) was caused by a monogenic defect of Exoc1. |
| 巻・号 | 5 |
| ページ | 13632 |
| 公開日 | 2015-9-8 |
| DOI | 10.1038/srep13632 |
| PII | srep13632 |
| PMID | 26346620 |
| PMC | PMC4562154 |
| MeSH | Animals Blastocyst / metabolism Chromosome Deletion* Chromosome Mapping Crosses, Genetic Gene Deletion* Genes, Lethal* Male Mice Mice, Knockout Mutation Phenotype* Polymorphism, Single Nucleotide Proto-Oncogene Proteins c-kit / genetics RNA Editing Vesicular Transport Proteins |
| IF | 3.998 |
| 引用数 | 10 |
| WOS 分野 | CELL BIOLOGY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 1 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 遺伝子材料 | px330-PK (RDB13939) px330-NE (RDB13940) pCAG-EGxxFP-PK (RDB13941) pCAG-EGxxFP-NE (RDB13942). |