Toshiyuki. Bohgaki, et.al., Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/21552324

Toshiyuki. Bohgaki, et.al., Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome., PLoS genetics, 2011, 7

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• small testis_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0001147I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased cellular sensitivity to ultraviolet irradiation_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008410I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• testicular atrophy_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0003205I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased tumor incidence_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002020I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdTrp53tm1BrdTrp53tm1BrdRnf168Gt405F11CmhdTrp53tm1Brd
• decreased IgG1 level_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008495I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• abnormal male germ cell morphology_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0006362I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased litter size_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0001935I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• small testis_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0001147I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• chromosomal instability_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008866I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• decreased gamma-delta T cell number_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008347I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• testicular atrophy_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0003205I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• increased double-negative T cell number_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0005090I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• increased tumor incidence_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002020I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdTrp53tm1BrdTrp53tm1BrdTrp53tm1BrdRnf168Gt156B6Cmhd
• abnormal Leydig cell morphology_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0002786I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• reduced male fertility_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0001922I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• chromosomal instability_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008866I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal T cell receptor delta chain V(D)J recombination_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008759I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal class switch recombination_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0004816I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal Leydig cell morphology_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0002786I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased male germ cell number_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0004901I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• increased hemangiosarcoma incidence_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0003667I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdTrp53tm1BrdTrp53tm1BrdRnf168Gt405F11CmhdTrp53tm1Brd
• increased hemangiosarcoma incidence_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0003667I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdTrp53tm1BrdTrp53tm1BrdTrp53tm1BrdRnf168Gt156B6Cmhd
• decreased IgG level_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0001805I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased cellular sensitivity to ultraviolet irradiation_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008410I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased cellular sensitivity to ionizing radiation_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0004227I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased cellular sensitivity to ionizing radiation_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0004227I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased IgG2a level_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008496I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal cell cycle checkpoint function_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0004045I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• decreased IgG2a level_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008496I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• abnormal cell cycle checkpoint function_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0004045I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• increased thymoma incidence_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0014127I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdTrp53tm1BrdTrp53tm1BrdTrp53tm1BrdRnf168Gt156B6Cmhd
• increased sarcoma incidence_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002032I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdTrp53tm1BrdTrp53tm1BrdTrp53tm1BrdRnf168Gt156B6Cmhd
• decreased IgG1 level_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008495I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal T cell receptor delta chain V(D)J recombination_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008759I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• decreased IgG level_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0001805I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased IgG3 level_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008498I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased litter size_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0001935I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• decreased gamma-delta T cell number_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0008347I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• increased B cell derived lymphoma incidence_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002023I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdTrp53tm1BrdTrp53tm1BrdRnf168Gt405F11CmhdTrp53tm1Brd
• increased sarcoma incidence_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002032I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdTrp53tm1BrdTrp53tm1BrdRnf168Gt405F11CmhdTrp53tm1Brd
• increased DN3 thymocyte number_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0010133I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• reduced male fertility_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>
  http://metadb.riken.jp/0001922I129S1Sv129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdRnf168Gt405F11Cmhd
• abnormal male germ cell morphology_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0006362I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased double-negative T cell number_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0005090I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• decreased IgG3 level_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0008498I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased DN3 thymocyte number_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0010133I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• abnormal class switch recombination_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0004816I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd
• increased thymoma incidence_Rnf168<Gt(405F11)Cmhd>/Rnf168<Gt(405F11)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0014127I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt405F11CmhdRnf168Gt405F11CmhdTrp53tm1BrdTrp53tm1BrdRnf168Gt405F11CmhdTrp53tm1Brd
• increased B cell derived lymphoma incidence_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>,Trp53<tm1Brd>/Trp53<tm1Brd>
  http://metadb.riken.jp/0002023I129S1Sv129S7SvEvBrd129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdTrp53tm1BrdTrp53tm1BrdTrp53tm1BrdRnf168Gt156B6Cmhd
• decreased male germ cell number_Rnf168<Gt(156B6)Cmhd>/Rnf168<Gt(156B6)Cmhd>
  http://metadb.riken.jp/0004901I129S1Sv129X1SvJC57BL6Rnf168Gt156B6CmhdRnf168Gt156B6CmhdRnf168Gt156B6Cmhd