neonatal lethality, complete penetrance_Tor1a<tm1Wtd>/Tor1a<tm1Wtd>

http://metadb.riken.jp/0011087I129S1SvTor1atm1WtdTor1atm1WtdTor1atm1Wtd

neonatal lethality, complete penetrance_Tor1a<tm1Wtd>/Tor1a<tm1Wtd>

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

遺伝子型

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

• Tor1a<tm1Wtd>/Tor1a<tm1Wtd>

アレルシンボル

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

• Tor1a<tm1Wtd>

遺伝的背景

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

• involves: 129S1/Sv

MP annotation

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

• complete neonatal lethality
  http://purl.obolibrary.org/obo/MP_0011087

文献

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

• Rose E. Goodchild, et.al., Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope., Neuron, 2005, 48
  http://rdf.ncbi.nlm.nih.gov/pubmed/16364897