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

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

pubmed

allele

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

• Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5693835
• Tor1a<tm4.1Wtd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5693628

表現型アノテーション

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

• impaired balance_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001525I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• weakness_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0000746I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• no abnormal phenotype detected_Tor1a<tm4.1Wtd>/Tor1a<tm4.1Wtd>
  http://metadb.riken.jp/0002169I129SSvEvC57BL6Tor1atm41WtdTor1atm41WtdTor1atm41Wtd
• weakness_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0000746I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• abnormal reflex_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001961I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• abnormal neuron morphology_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002882I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• hunched posture_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001505I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• limb grasping_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001513I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• abnormal cell nucleus morphology_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0003111I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• abnormal reflex_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001961I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• impaired coordination_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001405I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• delayed eyelid opening_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001290I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• decreased body weight_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001262I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• decreased body weight_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001262I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• neurodegeneration_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002229I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• decreased grip strength_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0010053I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• gliosis_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002183I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• preweaning lethality, incomplete penetrance_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0011110I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• limb grasping_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001513I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• premature death_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002083I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• decreased grip strength_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0010053I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• impaired coordination_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001405I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• impaired balance_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001525I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• tremors_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0000745I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• abnormal neuron morphology_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002882I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• premature death_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002083I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• tremors_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0000745I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• abnormal cerebellum deep nucleus morphology_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0009979I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd
• delayed eyelid opening_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001290I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• hunched posture_Tor1a<tm4.2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0001505I129SSvEv129S1SvC57BL6Tor1atm42WtdTor1atm42WtdTor1atm42Wtd
• gliosis_Tor1a<tm2Wtd>/Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/0002183I129SSvEv129S1SvC57BL6Tor1atm2WtdTor1atm42WtdTor1atm42WtdTor1atm2Wtd

class

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

• Tor1a<tm4.2Wtd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5693835
• Tor1a<tm4.1Wtd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5693628