J. Matsuda, et.al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse., Human molecular genetics, 2001, 10

http://rdf.ncbi.nlm.nih.gov/pubmed/11371512

J. Matsuda, et.al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse., Human molecular genetics, 2001, 10

rdfs:label

http://www.w3.org/2000/01/rdf-schema#label

• J. Matsuda, et.al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse., Human molecular genetics, 2001, 10

article

http://www.w3.org/2000/01/rdf-schema#seeAlso

• [Blank]

表現型アノテーション

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

• seizures in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001048
• demyelination in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001039
• muscular atrophy in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001050
• abnormal Schwann cell morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001041
• abnormal gait in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001045
• abnormal macrophage morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001051
• increased spinal cord size in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001052
• hypoactivity in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001043
• CNS inflammation in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001062
• abnormal intestinal peristalsis in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001053
• abnormal lipid level in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001047
• abnormal involuntary movement in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001054
• abnormal ventral spinal root morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001057
• neuronal intranuclear inclusions in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001058
• premature death in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001049
• abnormal nervous system morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001055
• abnormal spinal cord morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001040
• abnormal brainstem morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001059
• abnormal enzyme/coenzyme activity in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001061
• hyperactivity in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001042
• muscle weakness in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001036
• abnormal brain white matter morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001063
• neurogenic bladder in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001060
• hindlimb paralysis in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001037
• abnormal cerebellum morphology in RBRC00688
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1001038

Class

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

• B6;129S-Psap<tm2Suz>/JumaRbrc
  http://metadb.riken.jp/db/rikenbrc_mouse/RBRC00688

class

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

• Psap<tm2Suz>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2183897

表現型アノテーション

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

• muscular atrophy_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0002269I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• CNS inflammation_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0006082I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• premature death_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0002083I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• neurogenic bladder_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0005302I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal ventral spinal root morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0003993I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal cerebellum morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0000849I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• muscle weakness_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0000747I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal nervous system morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0003632I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal lipid level_Psap<tm1Suz>/Psap<tm1Suz>
  http://metadb.riken.jp/0001547I129P2OlaHsdPsaptm1SuzPsaptm1SuzPsaptm1Suz
• hyperactivity_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0001399I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• hindlimb paralysis_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0000755I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal lipid level_Galc<twi>/Galc<twi>
  http://metadb.riken.jp/0001547CEJGalctwiGalctwiGalctwi
• demyelination_Galc<twi>/Galc<twi>
  http://metadb.riken.jp/0000921CEJGalctwiGalctwiGalctwi
• abnormal intestinal peristalsis_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0003289I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• hypoactivity_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0001402I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• CNS inflammation_Galc<twi>/Galc<twi>
  http://metadb.riken.jp/0006082CEJGalctwiGalctwiGalctwi
• abnormal brain white matter morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0008026I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal brainstem morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0005277I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• increased spinal cord size_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0002809I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal Schwann cell morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0001106I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal lipid level_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0001547I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal involuntary movement_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0003492I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• seizures_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0002064I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• demyelination_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0000921I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal spinal cord morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0000955I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal gait_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0001406I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• neuronal intranuclear inclusions_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0004191I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal macrophage morphology_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0002446I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz
• abnormal enzyme/coenzyme activity_Psap<tm2Suz>/Psap<tm2Suz>
  http://metadb.riken.jp/0005584I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz

BRC マウスの系統

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

• B6;129S-Psap<tm2Suz>/JumaRbrc
  http://metadb.riken.jp/db/rikenbrc_mouse/RBRC00688

allele

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

• Psap<tm2Suz>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2183897