Ying. Sun, et.al., Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking., Human molecular genetics, 2007, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/17353235

Ying. Sun, et.al., Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking., Human molecular genetics, 2007, 16

pubmed

allele

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

• Psap<tm1Ggb>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3711720

class

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

• Psap<tm1Ggb>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3711720

表現型アノテーション

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

• kyphosis_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000160I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal reproductive system physiology_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0001919I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• ataxia_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0001393I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• Purkinje cell degeneration_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000876I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal telencephalon morphology_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000787I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• hindlimb paralysis_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000755I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• neuron degeneration_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0003224I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal myelination_Psap<tm1Juma>/Psap<tm1Juma>
  http://metadb.riken.jp/0000920FVB129SPsaptm1JumaPsaptm1JumaPsaptm1JumaPsaptm1Juma
• abnormal myelination_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000920I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• weight loss_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0001263I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal brainstem morphology_Psap<tm1Juma>/Psap<tm1Juma>
  http://metadb.riken.jp/0005277FVB129SPsaptm1JumaPsaptm1JumaPsaptm1JumaPsaptm1Juma
• abnormal myelination_Psap<tm1Suz>/Psap<tm1Suz>
  http://metadb.riken.jp/0000920I129P2OlaHsdC57BL6JPsaptm1SuzPsaptm1SuzPsaptm1Suz
• premature death_Psap<tm1Juma>/Psap<tm1Juma>
  http://metadb.riken.jp/0002083FVB129SPsaptm1JumaPsaptm1JumaPsaptm1JumaPsaptm1Juma
• straub tail_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0003382I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• premature death_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0002083I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal microglial cell physiology_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0003691I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal forebrain morphology_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000783I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal spleen morphology_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0000689I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• axon degeneration_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0005405I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal lipid level_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0001547I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal behavior_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0004924I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb
• abnormal microglial cell physiology_Psap<tm1Juma>/Psap<tm1Juma>
  http://metadb.riken.jp/0003691FVB129SPsaptm1JumaPsaptm1JumaPsaptm1JumaPsaptm1Juma
• neuronal intranuclear inclusions_Psap<tm1Ggb>/Psap<tm1Ggb>
  http://metadb.riken.jp/0004191I129SSvEvC57BL6JPsaptm1GgbPsaptm1GgbPsaptm1Ggb

表現型アノテーション

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

• abnormal myelination in RBRC01293
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1002419
• abnormal brainstem morphology in RBRC01293
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1002427
• premature death in RBRC01293
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1010447
• abnormal microglial cell physiology in RBRC01293
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1002426