thrombocytopenia_Igh-J<tm1Dhu>/Igh-J<tm1Dhu>,Wdr1<rede>/Wdr1<rede>

http://metadb.riken.jp/0003179I129S7SvEvBrdBALBcC57BL6IghJtm1DhuIghJtm1DhuWdr1redeWdr1redeWdr1redeIghJtm1Dhu

thrombocytopenia_Igh-J<tm1Dhu>/Igh-J<tm1Dhu>,Wdr1<rede>/Wdr1<rede>

表現型アノテーション

MGI marker

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

• WD repeat domain 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1337100
• immunoglobulin heavy chain, joining region
  http://metadb.riken.jp/db/mgi_rdf/MGI:96461

遺伝子型

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

• Igh-J<tm1Dhu>/Igh-J<tm1Dhu>,Wdr1<rede>/Wdr1<rede>

アレルシンボル

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

• Wdr1<rede>|Igh-J<tm1Dhu>

遺伝的背景

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

• involves: 129S7/SvEvBrd * BALB/c * C57BL/6

MP annotation

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

• decreased platelet cell number
  http://purl.obolibrary.org/obo/MP_0003179

文献

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

• Benjamin T. Kile, et.al., Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia., Blood, 2007, 110
  http://rdf.ncbi.nlm.nih.gov/pubmed/17515402