J. Tohyama, et.al., Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)., Human molecular genetics, 2000, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/10861297

J. Tohyama, et.al., Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)., Human molecular genetics, 2000, 9

pubmed

表現型アノテーション

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

• abnormal liver morphology_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0000598I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• induced hyperactivity_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0008911I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• enlarged liver_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0000599I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• premature death_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• abnormal renal glomerular capsule morphology_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0002828I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• abnormal lipid level_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0001547I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• demyelination_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0000921I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• neurodegeneration_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0002229I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• abnormal macrophage physiology_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0002451I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• seizures_Il6<tm1Kopf>/Il6<tm1Kopf>
  http://metadb.riken.jp/0002064I129S2SvPasC57BL6JCEJIl6tm1KopfIl6tm1KopfIl6tm1Kopf
• enlarged spleen_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0000691I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz
• demyelination_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0000921I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• seizures_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0002064I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• abnormal lipid level_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0001547I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• premature death_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz
• premature death_Galc<twi>/Galc<twi>
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGalctwi
• abnormal renal tubule epithelium morphology_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<tm1Adz>
  http://metadb.riken.jp/0009640I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1tm1AdzGalctwiGlb1tm1Adz

表現型アノテーション

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

• seizures in RBRC04918
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1007137
• seizures in RBRC04919
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1007208
• seizures in RBRC05131
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1007691