dystonia_En1<tm2(cre)Wrst>/En1<+>,Tor1a<tm2Wtd>/Tor1a<tm3.1Wtd>

http://metadb.riken.jp/0005323I129S1Sv129S6SvEvTacC57BL6JSJLEn1tm2creWrstEn1Tor1atm2WtdTor1atm31WtdEn1Tor1atm31WtdTor1atm2WtdEn1tm2creWrst

dystonia_En1<tm2(cre)Wrst>/En1<+>,Tor1a<tm2Wtd>/Tor1a<tm3.1Wtd>

表現型アノテーション

MGI marker

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

• engrailed 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95389
• torsin family 1, member A (torsin A)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1353568

遺伝子型

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

• En1<tm2(cre)Wrst>/En1<+>,Tor1a<tm2Wtd>/Tor1a<tm3.1Wtd>

アレルシンボル

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

• En1<+>|Tor1a<tm3.1Wtd>|Tor1a<tm2Wtd>|En1<tm2(cre)Wrst>

遺伝的背景

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

• involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

MP annotation

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

• dystonia
  http://purl.obolibrary.org/obo/MP_0005323

文献

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

• Chun-Chi. Liang, et.al., TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration., The Journal of clinical investigation, 2014, 124
  http://rdf.ncbi.nlm.nih.gov/pubmed/24937429