Y. Liu, et.al., A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder., The Journal of clinical investigation, 1999, 103

http://rdf.ncbi.nlm.nih.gov/pubmed/10021458

Y. Liu, et.al., A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder., The Journal of clinical investigation, 1999, 103

pubmed

allele

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

• B4galnt1<tm1Rlp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2158349

class

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

• B4galnt1<tm1Rlp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2158349

表現型アノテーション

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

• ataxia_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001393I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• abnormal renal tubule epithelium morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0009640I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• impaired righting response_B4galnt1<tm1Rlp>/B4galnt1<+>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001523I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1Hexbtm1RlpHexbtm1RlpB4galnt1tm1RlpB4galnt1Hexbtm1Rlp
• impaired coordination_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001405I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• premature death_Hexb<tm1Rlp>/Hexb<+>
  http://metadb.riken.jp/0002083I129S4SvJaeC57BL6Hexbtm1RlpHexbHexbtm1RlpHexb
• impaired coordination_B4galnt1<tm1Rlp>/B4galnt1<+>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001405I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1Hexbtm1RlpHexbtm1RlpB4galnt1tm1RlpB4galnt1Hexbtm1Rlp
• abnormal macrophage morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0002446I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• seminiferous tubule degeneration_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001154I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• abnormal Purkinje cell morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0000877I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• seminiferous tubule degeneration_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>
  http://metadb.riken.jp/0001154I129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpB4galnt1tm1Rlp
• impaired righting response_Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0001523I129S4SvJaeC57BL6Hexbtm1RlpHexbtm1RlpHexbtm1Rlp
• Purkinje cell degeneration_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0000876I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp
• male infertility_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>
  http://metadb.riken.jp/0001925I129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpB4galnt1tm1Rlp
• premature death_Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0002083I129S4SvJaeC57BL6Hexbtm1RlpHexbtm1RlpHexbtm1Rlp
• abnormal neuron morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>
  http://metadb.riken.jp/0002882I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp