preweaning lethality, incomplete penetrance_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>

http://metadb.riken.jp/0011110I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd

preweaning lethality, incomplete penetrance_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>

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<tm4.2Wtd>/Tor1a<tm4.2Wtd>

アレルシンボル

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

• Tor1a<tm4.2Wtd>

遺伝的背景

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

• involves: 129S/SvEv * 129S1/Sv * C57BL/6

MP annotation

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

• partial preweaning lethality
  http://purl.obolibrary.org/obo/MP_0011110

文献

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

• Corinne E. Weisheit, et.al., A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/26370418