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RIKEN BioResource Research Center Technology and Development Team for Mouse Phenotype Analysis

Team Leader: Masaru Tamura (Ph.D.)

Research Summary

Masaru  Tamura(Ph.D.)

The Technology and Development Team for Mouse Phenotype Analysis develop a systematic and comprehensive phenotyping platform consisting of more than 400 test items, based on the knowledge of pathogenesis of human diseases. Using this system, we perform more comprehensive and profound phenotyping of mouse mutants, which are and will be deposited to RIKEN BRC. Judging from the results of preceding foreign phenotyping projects, we expect that existing mouse mutants be revalued as new disease models by identified novel phenotypes. We also develop a standard operating procedures (SOP) of mouse phenotyping and exchange this information with attending the IMPC (International Mouse Phenotyping Consortium) projects for analyzing international public knockout mouse resources, and thereby we will contribute to international efforts for standardization of mouse phenotype data. Finally, through collaborations with and our team will integrate information of mouse phenotypes and clinical features of human diseases. It will enable more objective characterization of mouse mutants, and lead to the development of high value-added mouse resources.

Main Research Fields

  • Molecular Biology & Genetics

Related Research Fields

  • Biology & Biochemistry
  • Clinical Medicine
  • Plant & Animal Science
  • Neuroscience & Behavior
  • Psychology & Psychiatry
  • Multidisciplinary

Research Subjects

  • Development of a systematic and comprehensive mouse phenotyping platform
  • Development of standard operating procedures (SOP) of mouse phenotyping in worldwide.
  • International contribution for standerized mouse phenotyping in IMPC
  • Influence on mouse phenotype of the environmental factor (pregnancy nutrition : DOHaD)

Selected Publications

  • 1.Meehan, TF. et al. and The International Mouse Phenotyping Consortium (IMPC).:
    “Disease Model Discovery from 3,328 Gene Knockouts by The International Mouse Phenotyping Consortium.”
    Nature Genetics 2017, 49: 1231-1238.
  • 2.Karp NA. et al. and The International Mouse Phenotyping Consortium (IMPC).:
    “Prevalence of sexual dimorphism in mammalian phenotypic traits.”
    Nature Communications 2017, 8: 15475.
  • 3.Fujihira H. Masahara-Negishi Y. Tamura M. Harada Y. Chengcheng H. Wakana S. Taniguchi N. Kondoh G. Yamashita T. Funakoshi Y. and Suzuki T.:
    “Lethality of mice bearing a knockout of the Ngly1-gene is rescued by the additional deletion of the Engase gene.”
    PLoS Genetics. 2017 13: e1006696
  • 4.Kitazawa M. Tamura M. Kaneko-Ishino T. and Ishino F.:
    “Severe damage to the placental fetal capillary network causes mid to late fetal lethality and reduction of placental size in Peg11/Rtl1 KO mice.”
    Genes to Cells 2017, 22: 174-188.
  • 5.Dickinson ME. Flenniken AM. Ji X. Teboul L. Wong MD. White JK. Meehan TF. Weninger WJ. Westerberg H. Adissu H. Baker CN. Bower L. Brown JM. Caddle LB. Chiani F. Clary D. Cleak J. Daly MJ. Denegre JM. Doe B. Edie SM. Fuchs H. Gailus-Durner V. Galli A. Gambadaro A. Gallegos J. Guo S. Horner NR. Hsu Cw. Johnson SJ. Kalaga S. Keith LC. Lanoue L. Lawson TN. Lek M. Mark M. Marschall S. Mason J. McElwee ML. Newbigging S. Nutter LMJ. Peterson KA. Ramirez-Solis R. Rowland DJ. Ryder E. Samocha KE. Seavitt JR. Selloum M. Szoke-Kovacs Z. Tamura M. Trainor AG. Tudose I. Wakana S. Warren J. Wendling O. West DB. Wong L. Yoshiki A. The International Mouse Phenotyping Consortium, MacArthur DG. Tocchini-Valentini GP. Gao X. Flicek P. Justice M. Parkinson HE. Moore M. Wells S. Braun RE. Svenson K. de Angelis MH. Herault Y. Mohun T. Mallon AM. Henkelman RM. Brown SD. Adams D. Lloyd KCK. McKerlie C. Beaudet AL. Bucan M. and Murray SA.:
    “High-throughput discovery of novel developmental phenotypes.”
    Nature, 2016 537: 508-514
  • 6.Tamura M. and Shiroishi T.:
    “GSDM family genes meet autophagy.”
    Biochemical Journal, 2015 469: e5-e7
  • 7.Xie Z. Liang X. Guo L. Kitamoto A. Tamura M. Shiroishi T. and Gillies D.:
    “An automatic classification framework for ventricular septal defects: a pilot study on high-throughput mouse embryo cardiac phenotyping.”
    Journal of Medical Imaging, 2015 2 (4): 041003
  • 8.Tamura M. Amano T. and Shiroishi T.:
    The Hand2 gene dosage effect in developmental defects and human congenital disorders.”
    Current Topics in Developmental Biology, 2014 110: 129-152
  • 9.Nabeshima Y. Washida M. Tamura M. Yurugi K. Ohnishi M. Maeno A. St-Arnaud S. Shiroishi T. Razzaque MS. Imura A. and Nabeshima Y.:
    “Calpain 1 inhibitor, BDA-410 restores a-klotho deficient phenotypes resembling to human aging related syndromes.”
    Scientific Reports, 2014 4: 5847
  • 10.Tamura M. Hosoya M. Fujita M. Iida T. Amano T. Maeno A. Kataoka T. Otsuka T. Tanaka S, Tomizawa S. and Shiroishi T.:
    “Over-dosage of Hand2 causes limb and heart defects in human chromosomal disorder, partial trisomy distal 4q.”
    Human Molecular Genetics, 2013 22: 2471-2481

Recent Research Results


Related Links

Lab Members

Principal investigator

Masaru Tamura
Team Leader

Core members

Ryo Kominami
Research Consultant
Tamio Furuse
Research and Development Scientist
Ikuo Miura
Technical Scientist
Ikuko Yamada
Technical Scientist
Hirotoshi Shibuya
Postdoctoral Researcher
Tomoko Kushida
Technical Staff II
Kyoko Ikeda
Technical Staff II
Ai Ozaki
Technical Staff II
Akiko Shinogi
Technical Staff II
Yasuyo Kozawa
Technical Staff II
Mao Ozaki
Technical Staff II
Shundan JIN
Technical Staff II
Tomona Oikawa
Technical Staff II

Contact Information

3-1-1 Koyadai
Tsukuba, Ibaraki
305-0074 Japan