Isidre. Ferrer, et.al., Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage., Human molecular genetics, 2005, 14

http://rdf.ncbi.nlm.nih.gov/pubmed/16223892

Isidre. Ferrer, et.al., Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage., Human molecular genetics, 2005, 14

pubmed

allele

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

• Abcd2<tm1Apuj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3612442

class

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

• Abcd2<tm1Apuj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3612442

表現型アノテーション

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

• Purkinje cell degeneration_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000876I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal dorsal root ganglion morphology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000961I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• impaired balance_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001525I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• hyperactivity_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001399I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal Purkinje cell morphology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000877I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal nervous system physiology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0003633I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• axon degeneration_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0005405I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal nervous system electrophysiology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0002272I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• ataxia_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001393I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• ataxia_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001393I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal CNS glial cell morphology_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000952I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• impaired coordination_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001405I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal motor coordination/ balance_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001516I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• impaired balance_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001525I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• tremors_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000745I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal nervous system electrophysiology_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0002272I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• gliosis_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0002183I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal locomotor behavior_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001392I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal locomotor behavior_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001392I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• increased fatty acid level_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0005281I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• abnormal posture_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001504I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal axon morphology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0005404I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• tremors_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000745I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• abnormal cerebellar Purkinje cell layer_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000875I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• neuron degeneration_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0003224I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• increased fatty acid level_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0005281I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• abnormal CNS glial cell morphology_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0000952I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• astrocytosis_Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0003354I129S1Sv129X1SvJC57BL6JAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1Apuj
• decreased vertical activity_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0002757I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• abnormal posture_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0001504I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds
• abnormal involuntary movement_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>
  http://metadb.riken.jp/0003492I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds