William. Giblin, et.al., Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation., Blood, 2009, 113

http://rdf.ncbi.nlm.nih.gov/pubmed/19126872

William. Giblin, et.al., Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation., Blood, 2009, 113

pubmed

allele

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

• Rag1<tm1Jsek>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840831

class

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

• Rag1<tm1Jsek>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840831

表現型アノテーション

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

• decreased CD8-positive, alpha-beta T cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008079I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• decreased CD4-positive, alpha beta T cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008075I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• abnormal B cell differentiation_Rag1<tm1Jsek>/Rag1<+>
  http://metadb.riken.jp/0002144I129S6SvEvTacRag1tm1JsekRag1Rag1tm1JsekRag1
• abnormal immunoglobulin heavy chain V(D)J recombination_Rag1<tm1Jsek>/Rag1<+>
  http://metadb.riken.jp/0008760I129S6SvEvTacRag1tm1JsekRag1Rag1tm1JsekRag1
• decreased double-positive T cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0005092I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• increased double-negative T cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0005090I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• arrested T cell differentiation_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0001825I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• increased pro-B cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008186I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• abnormal lymphopoiesis_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0002401I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• abnormal immunoglobulin heavy chain V(D)J recombination_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008760I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• arrested B cell differentiation_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0001802I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• abnormal T cell receptor beta chain V(D)J recombination_Rag1<tm1Jsek>/Rag1<+>
  http://metadb.riken.jp/0008758I129S6SvEvTacRag1tm1JsekRag1Rag1tm1JsekRag1
• abnormal T cell receptor beta chain V(D)J recombination_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008758I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• absent mature B cells_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008212I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• premature death_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>
  http://metadb.riken.jp/0002083I129S2SvPas129S6SvEvTacRag1tm1JsekRag1tm1JsekTrp53tm1TyjTrp53tm1TyjRag1tm1JsekTrp53tm1Tyj
• spontaneous chromosome breakage_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>
  http://metadb.riken.jp/0004029I129S2SvPas129S6SvEvTacRag1tm1JsekRag1tm1JsekTrp53tm1TyjTrp53tm1TyjRag1tm1JsekTrp53tm1Tyj
• abnormal T cell differentiation_Rag1<tm1Jsek>/Rag1<+>
  http://metadb.riken.jp/0002145I129S6SvEvTacRag1tm1JsekRag1Rag1tm1JsekRag1
• abnormal T cell receptor V(D)J recombination_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008754I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• thymus hypoplasia_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0001823I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• absent immature B cells_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008213I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• increased T cell derived lymphoma incidence_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>
  http://metadb.riken.jp/0002024I129S2SvPas129S6SvEvTacRag1tm1JsekRag1tm1JsekTrp53tm1TyjTrp53tm1TyjRag1tm1JsekTrp53tm1Tyj
• spontaneous chromosome breakage_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0004029I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• decreased survivor rate_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>
  http://metadb.riken.jp/0008770I129S2SvPas129S6SvEvTacRag1tm1JsekRag1tm1JsekTrp53tm1TyjTrp53tm1TyjRag1tm1JsekTrp53tm1Tyj
• decreased gamma-delta T cell number_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0008347I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• abnormal immunoglobulin level_Rag1<tm1Jsek>/Rag1<tm1Jsek>
  http://metadb.riken.jp/0002490I129S6SvEvTacRag1tm1JsekRag1tm1JsekRag1tm1Jsek
• decreased double-positive T cell number_Rag1<tm1Jsek>/Rag1<+>
  http://metadb.riken.jp/0005092I129S6SvEvTacRag1tm1JsekRag1Rag1tm1JsekRag1