Francesca. Rucci, et.al., Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome., Proceedings of the National Academy of Sciences of the United States of America, 2010, 107

http://rdf.ncbi.nlm.nih.gov/pubmed/20133615

Francesca. Rucci, et.al., Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome., Proceedings of the National Academy of Sciences of the United States of America, 2010, 107

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

トランスクリプトームデータ

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

• CD20702
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD20702

allele

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

• Lig4<tm2.1Fwa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4437270

表現型アノテーション

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

• abnormal immune system cell morphology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000716I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased interferon-gamma secretion_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008567I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased IgG level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001805I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal T cell receptor beta chain V(D)J recombination_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008758I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased splenocyte number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0009339I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal T cell activation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001828I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• reduced fertility_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001921I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased double-positive T cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0005092I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased T cell apoptosis_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0006413I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• liver inflammation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001860I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased IgG2b level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008497I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased anti-chromatin antibody level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004829I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased interleukin-13 secretion_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008673I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased IgM level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001806I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased medulloblastoma incidence_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0006283I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased double-negative T cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0005089I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal T cell differentiation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002145I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased anti-double stranded DNA antibody level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004762I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• small spleen_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000692I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal B cell differentiation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002144I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• postnatal growth retardation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001732I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal thymus morphology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000703I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased T cell derived lymphoma incidence_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002024I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• premature death_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002083I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased colon adenocarcinoma incidence_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0009314I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased B cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0005017I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased spleen weight_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004953I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased body weight_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001262I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• chromosomal instability_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008866I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased CD8-positive, alpha-beta T cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008079I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased T cell proliferation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0005095I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal T cell receptor V(D)J recombination_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008754I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased thymus weight_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004956I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased body size_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001265I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased IgG3 level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008498I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal cell physiology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0005621I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal immune system organ morphology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002722I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased immunoglobulin level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002460I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal lymphocyte cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000717I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal B cell activation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008217I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased CD4-positive, alpha beta T cell number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0008075I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased IgA level_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001807I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal immune system physiology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001790I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• spontaneous chromosome breakage_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004029I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• intestinal inflammation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0001858I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal immune system morphology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000685I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• increased cellular sensitivity to gamma-irradiation_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0002007I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• decreased thymocyte number_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000715I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• abnormal regulatory T cell morphology_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0004941I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa
• small thymus_Lig4<tm2.1Fwa>/Lig4<tm2.1Fwa>
  http://metadb.riken.jp/0000706I129S6SvEvTacLig4tm21FwaLig4tm21FwaLig4tm21Fwa