postnatal lethality, complete penetrance_Tg(Nes-cre)1Kln/0,Tor1a<tm1Wtd>/Tor1a<tm3.1Wtd>

http://metadb.riken.jp/0011085I129S1Sv129S6SvEvTacC57BL6JSJLTgNescre1Kln0Tor1atm1WtdTor1atm31WtdTor1atm1WtdTgNescre1KlnTor1atm31Wtd

postnatal lethality, complete penetrance_Tg(Nes-cre)1Kln/0,Tor1a<tm1Wtd>/Tor1a<tm3.1Wtd>

表現型アノテーション

MGI marker

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

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

• Tg(Nes-cre)1Kln/0,Tor1a<tm1Wtd>/Tor1a<tm3.1Wtd>

アレルシンボル

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

• Tor1a<tm1Wtd>|Tg(Nes-cre)1Kln|Tor1a<tm3.1Wtd>

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

• complete postnatal lethality
  http://purl.obolibrary.org/obo/MP_0011085

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