Christopher A. Wassif, et.al., HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency., Human molecular genetics, 2007, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/17403717

Christopher A. Wassif, et.al., HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency., Human molecular genetics, 2007, 16

pubmed

allele

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

• Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3829354

表現型アノテーション

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

• demyelination_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0000921I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• prenatal lethality, complete penetrance_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<+>
  http://metadb.riken.jp/0011091I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2Tm7sf2Tm7sf2tm1FdpLbricJ
• abnormal spleen morphology_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0000689I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• postnatal growth retardation_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0001732I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• abnormal trabecular bone morphology_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0000130I129S4SvJaeC57BL6LbricJLbricJLbricJ
• scaly skin_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0001192I129S4SvJaeC57BL6LbricJLbricJLbricJ
• abnormal long bone epiphyseal plate morphology_Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0003055I129S4SvJaeC57BL6Tm7sf2tm1FdpTm7sf2tm1FdpTm7sf2tm1Fdp
• extramedullary hematopoiesis_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<+>
  http://metadb.riken.jp/0000240I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2Tm7sf2Tm7sf2tm1FdpLbricJ
• embryonic lethality, complete penetrance_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0011092I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2tm1FdpTm7sf2tm1FdpLbricJ
• abnormal spleen morphology_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0000689I129S4SvJaeC57BL6LbricJLbricJLbricJ
• postnatal lethality, complete penetrance_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0011085I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• cleft palate_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<+>
  http://metadb.riken.jp/0000111I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2Tm7sf2Tm7sf2tm1FdpLbricJ
• abnormal neutrophil differentiation_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0002415I129S4SvJaeC57BL6LbricJLbricJLbricJ
• abnormal homeostasis_Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0001764I129S4SvJaeC57BL6Tm7sf2tm1FdpTm7sf2tm1FdpTm7sf2tm1Fdp
• abnormal skeleton development_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0002113I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• sparse hair_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0000416I129S4SvJaeC57BL6LbricJLbricJLbricJ
• syndactyly_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0000564I129S4SvJaeC57BL6LbricJLbricJLbricJ
• abnormal homeostasis_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0001764I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• decreased width of hypertrophic chondrocyte zone_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0003409I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• ataxia_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0001393I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• fused phalanges_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<+>
  http://metadb.riken.jp/0008730I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2Tm7sf2Tm7sf2tm1FdpLbricJ
• postnatal growth retardation_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0001732I129S4SvJaeC57BL6LbricJLbricJLbricJ
• tremors_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0000745I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp
• abnormal long bone epiphyseal plate morphology_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0003055I129S4SvJaeC57BL6LbricJLbricJLbricJ
• dry skin_Lbr<ic-J>/Lbr<ic-J>
  http://metadb.riken.jp/0003853I129S4SvJaeC57BL6LbricJLbricJLbricJ
• abnormal long bone epiphyseal plate proliferative zone_Lbr<ic-J>/Lbr<+>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/0003662I129S4SvJaeC57BL6LbricJLbrTm7sf2tm1FdpTm7sf2tm1FdpLbricJLbrTm7sf2tm1Fdp

class

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

• Tm7sf2<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3829354

トランスクリプトームデータ

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

• CD15078
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD15078