spontaneous chromosome breakage_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>

http://metadb.riken.jp/0004029I129S2SvPas129S6SvEvTacRag1tm1JsekRag1tm1JsekTrp53tm1TyjTrp53tm1TyjRag1tm1JsekTrp53tm1Tyj

spontaneous chromosome breakage_Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>

表現型アノテーション

MGI marker

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

• recombination activating gene 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:97848
• transformation related protein 53
  http://metadb.riken.jp/db/mgi_rdf/MGI:98834

遺伝子型

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

• Rag1<tm1Jsek>/Rag1<tm1Jsek>,Trp53<tm1Tyj>/Trp53<tm1Tyj>

アレルシンボル

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

• Rag1<tm1Jsek>|Trp53<tm1Tyj>

遺伝的背景

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

• involves: 129S2/SvPas * 129S6/SvEvTac

MP annotation

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

• spontaneous chromosome breakage
  http://purl.obolibrary.org/obo/MP_0004029

文献

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

• 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