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자료유형
학술저널
저자정보
Jin‑Sung Park (Seoul National University Hospital) Joo‑Il Kim (Seoul National University Hospital) Hyun‑Jin Lim (Seoul National University Hospital) Soo‑Kyung Ryu (Seoul National University Hospital) Euna Kwon (Seoul National University Hospital) Kang‑Min Han (Seoul National University College of Medicine) Ki‑Taek Nam (Yonsei University) Han‑Woong Lee (Yonsei University) Byeong‑Cheol Kang (Seoul National University Hospital)
저널정보
한국유전학회 Genes & Genomics Genes & Genomics Vol.42 No.9
발행연도
2020.1
수록면
1,023 - 1,033 (11page)

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Background p19arf, primarily known as a tumor suppressor, has also been reported to play an essential role in normal development of mouse eyes. Consistently, lack of p19arf has been associated with ocular defects, but the mixed background of the knockout (KO) mouse strain used raised a concern on the accuracy of the phenotypes observed in association with the targeted gene due to genetic heterogeneity. Object We carried out a study to investigate into the efect of genetic background on the manifestation of p19arf KO associated phenotypes. Methods We characterized the phenotypes of novel p19arf KO mouse lines generated in FVB/N and C57BL/6J using a transcription activator-like efector nuclease (TALEN) system in comparison to the reported phenotypes of three other p19arf-defcient mouse lines generated using homologous recombination. Results Ninety-fve percent of FVB/N-p19arf KO mice showed ocular opacity from week 4 after birth which worsened rapidly until week 6, while such abnormality was absent in C57BL/6J-p19arf KO mice up to the age of 26 weeks. Histopathological analysis revealed retrolental masses and dysplasia in the retinal layer in FVB/N-p19arf KO mice from week 4. Besides these, both strains developed normally from birth to week 26 without increased tumorigenesis except for a subcutaneous tumor found in a C57BL/6J-p19arf KO mouse. Conclusion Our fndings demonstrated surprisingly variable manifestation of p19arf-linked phenotypes between FVB/N and C57BL/6J mice, and furthermore between our mouse lines and the established lines, indicating a critical impact of genetic background on functional study of genes using gene targeting strategies in mice.

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