Genomes and Genes
Affiliation: RIKEN Brain Science Institute
- Phenosite: a web database integrating the mouse phenotyping platform and the experimental procedures in miceHiroshi Masuya
Mouse Functional Genomics Research Group, RIKEN GSC, Tsukuba, Ibaraki, Japan
J Bioinform Comput Biol 5:1173-91. 2007..These approaches rely entirely upon experiment-based evidence, ensuring the reliability of the integrated data from different phenotyping platforms...
- A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in miceHiroshi Masuya
Mouse Functional Genomics Research Group, RIKEN GSC, Tsukuba, Ibaraki, Japan
Hum Mol Genet 16:2366-75. 2007..This study further highlights a critical role of GDF5 in joint formation and the development of OA, and this mouse should serve as a good model for OA...
- Behavioral and neuromorphological characterization of a novel Tuba1 mutant mouseTamio Furuse
Technology and Development Team for Mouse Phenotype Analysis, Japan Mouse Clinic, RIKEN BioResource Center, 3 1 1 Koyadai, Tsukuba, Ibaraki 305 0074, Japan
Behav Brain Res 227:167-74. 2012..The results of a behavioral pharmacological analysis using methylphenidate and morphological analyses of embryonic and adult brains suggested that Tuba1(Rgsc1736) is a novel animal model for neurodevelopmental disorders...
- ENU mutagenesis screening for dominant behavioral mutations based on normal control data obtained in home-cage activity, open-field, and passive avoidance testsYumiko Wada
Technology and Development Team for Mouse Phenotype Analysis, Japan Mouse Clinic, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan
Exp Anim 59:495-510. 2010..Genetic and detailed behavioral analysis of these ENU-induced mutants will provide novel insights into the molecular mechanisms underlying behavior...
- Phenotypic characterization of a new Grin1 mutant mouse generated by ENU mutagenesisTamio Furuse
Technology and Development Team for Mouse Phenotype Analysis Japan Mouse Clinic, RIKEN BioResource Center, 3 1 1 Koyadai, Tsukuba, Ibaraki 305 0074, Japan
Eur J Neurosci 31:1281-91. 2010..The results of immunohistochemical and biochemical analyses suggested that impaired interaction between the glutamatergic pathway and dopaminergic pathway may underlie the behavioral phenotypes of the Grin1(Rgsc174) mutant...
- A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb budHiroshi Masuya
Mouse Functional Genomics Research Group, RIKEN GSC 3 1 1 Kouyadai, Tsukuba, Ibaraki 305 0074, Japan
Genomics 89:207-14. 2007..Thus, this study shows that gene-driven screening for ENU-induced mutations is an effective approach for exploring the function of conserved, noncoding sequences and potential cis-regulatory elements...
- Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis programHiroshi Masuya
Functional Genomics Research Group, RIKEN Genomic Sciences Center, 3 1 1 Kouyadai, Tsukubai, Ibaraki, Japan
Mamm Genome 16:829-37. 2005..They could hold great potential for the unraveling of the molecular mechanisms of certain phenotypes...
- Novel mouse model for Gardner syndrome generated by a large-scale N-ethyl-N-nitrosourea mutagenesis programHideaki Toki
Team for Advanced Development and Evaluation of Human Disease Models, RIKEN BioResource Center, Tsukuba, Japan
Cancer Sci 104:937-44. 2013..Our Apc1576 mutant mice will be valuable not only for understanding the function of the Apc gene in detail but also as models of human Gardner syndrome. ..
- Introduction to the Japan Mouse Clinic at the RIKEN BioResource CenterShigeharu Wakana
Technology and Development Team for Mouse Phenotype Analysis, RIKEN BioResource Center, Tsukuba City, Ibaraki, Japan
Exp Anim 58:443-50. 2009..Moreover, we will contribute to international efforts to standardize mouse phenotype data by sharing annotation of mutant phenotypes, which are made by internationally standardized methods, with other related projects...
- Novel retinoblastoma mutation abrogating the interaction to E2F2/3, but not E2F1, led to selective suppression of thyroid tumorsHideaki Toki
Team for Advanced Development and Evaluation of Human Disease Models, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan
Cancer Sci 105:1360-8. 2014..Thus, this mutant mouse model can be used to investigate human Rb family-bearing mutations at the N-terminal region...
- Pheno-Pub: a total support system for the publication of mouse phenotypic data on the webTomohiro Suzuki
Technology and Development Team for Mouse Phenotype Analysis, RIKEN BioResource Center, 3 1 1 Koyadai, Tsukuba, Ibaraki, 305 0074, Japan
Mamm Genome 24:473-83. 2013..Therefore, Pheno-Pub contributes significantly to the publication of data in various fields of phenotyping research and to broad data sharing, thereby promoting the understanding of the functions of the entire mouse genome. ..
- Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)Hiroshi Masuya
Mouse Functional Genomics Research Group, Tsukuba, Ibaraki, Japan
Hum Mol Genet 14:575-83. 2005..Thus, we report here that the Enam gene is essential for amelogenesis, and that mice with different point mutations at Enam may provide good animal models to study the different clinical subtypes of AI...
- Development and implementation of a database system to manage a large-scale mouse ENU-mutagenesis programHiroshi Masuya
Mouse Functional Genomics Research Group, RIKEN GSC, 214 Maeda cho, Totsuka ku, 244 0804, Yokohama City, Kanagawa, Japan
Mamm Genome 15:404-11. 2004..It significantly contributed to the communication within and between workgroups in the program and in the accumulation of various phenotypic and inheritance data...
- Objective evaluation measures of genetic marker selection in large-scale SNP genotypingEli Kaminuma
Bioinformatics and Systems Engineering Division, RIKEN Yokohama Institute, 1 7 22, Suehiro, Tsurumi, Yokohama 230 0045, Japan
J Bioinform Comput Biol 6:905-17. 2008..These two evaluation measures were implemented as the GTAssist software. GTAssist provides objective standards and avoids subjective biases in SNP genotyping workflows...
- A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis programMaki Inoue
Mouse Functional Genomics Research Group, RIKEN Genomic Sciences Center, Kanagawa, Japan
Hum Mol Genet 13:1147-57. 2004..This collection of Gk mutants will be valuable for understanding GK gene function, for dissecting the function of the enzyme and as models of human MODY2 and PNDM...
- The RIKEN integrated database of mammalsHiroshi Masuya
RIKEN BioResource Center, Tsukuba, Japan
Nucleic Acids Res 39:D861-70. 2011....
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filamentShigekazu Tanaka
Mammalian Genetics Laboratory, Genetic Strains Research Center, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka, Japan
Genomics 90:703-11. 2007..These results suggest that the helix termination motif is essential for the proper assembly of types I and II IRS keratin protein complexes and the formation of keratin intermediate filaments...
- Molecular characterization of ENU mouse mutagenesis and archivesYoshiyuki Sakuraba
RIKEN Genomic Sciences Center, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama 230 0045, Japan
Biochem Biophys Res Commun 336:609-16. 2005..The base-substitution spectra in this study were different from those of the phenotype-based mutagenesis. The ENU-based gene-driven mutagenesis in the mouse now becomes feasible and practical...
- Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resourcesJohn M Hancock
Mamm Genome 18:157-63. 2007..This process is ongoing and needs to be supported by the wider mouse genetics and phenotyping communities to succeed. We invite interested parties to contact us as we develop this process further...
- Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI projectChris F Taylor
European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK
Nat Biotechnol 26:889-96. 2008
- Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)Tomoko Sagai
Mammalian Genetics Laboratory, National Institute of Genetics, Yata 1111, Mishima, Shizuoka ken 411 8540, Japan
Mamm Genome 15:23-34. 2004..Absence of the conserved sequence in limbless reptiles and amphibians and a cis- trans test using the Hx and Shh KO alleles suggest that the sequence is a cis-acting regulator that controls the polarized expression of Shh...