increased medulloblastoma incidence_Lig4<tm1Pmc>/Lig4<tm1Pmc>,Trp53<tm1Tyj>/Trp53<tm1Tyj>,Xrcc2<tm2Pmc>/Xrcc2<tm2Pmc>,Tg(Nes-cre)1Kln/0

http://metadb.riken.jp/0006283I129S1Sv129S2SvPasC57BL6SJLLig4tm1PmcLig4tm1PmcTrp53tm1TyjTrp53tm1TyjXrcc2tm2PmcXrcc2tm2PmcTgNescre1Kln0TgNescre1KlnXrcc2tm2PmcTrp53tm1TyjLig4tm1Pmc

increased medulloblastoma incidence_Lig4<tm1Pmc>/Lig4<tm1Pmc>,Trp53<tm1Tyj>/Trp53<tm1Tyj>,Xrcc2<tm2Pmc>/Xrcc2<tm2Pmc>,Tg(Nes-cre)1Kln/0

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• X-ray repair complementing defective repair in Chinese hamster cells 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1927345
• ligase IV, DNA, ATP-dependent
  http://metadb.riken.jp/db/mgi_rdf/MGI:1335098
• transformation related protein 53
  http://metadb.riken.jp/db/mgi_rdf/MGI:98834
• transgene insertion 1, Rudiger Klein
  http://metadb.riken.jp/db/mgi_rdf/MGI:2176172

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Lig4<tm1Pmc>/Lig4<tm1Pmc>,Trp53<tm1Tyj>/Trp53<tm1Tyj>,Xrcc2<tm2Pmc>/Xrcc2<tm2Pmc>,Tg(Nes-cre)1Kln/0

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Tg(Nes-cre)1Kln|Xrcc2<tm2Pmc>|Trp53<tm1Tyj>|Lig4<tm1Pmc>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• increased medulloblastoma incidence
  http://purl.obolibrary.org/obo/MP_0006283

文献

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

• Pierre-Olivier. Frappart, et.al., Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106
  http://rdf.ncbi.nlm.nih.gov/pubmed/19164512