Ingrid. van der Pluijm, et.al., Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome., PLoS biology, 2007, 5

http://rdf.ncbi.nlm.nih.gov/pubmed/17326724

Ingrid. van der Pluijm, et.al., Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome., PLoS biology, 2007, 5

pubmed

表現型アノテーション

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

• postnatal growth retardation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>
  http://metadb.riken.jp/0001732I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhErcc6tm1Gvh
• cachexia_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0005150I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• abnormal Purkinje cell morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000877B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• increased liver glycogen level_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0010400B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• dystonia_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0005323B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• postnatal lethality, complete penetrance_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0011085I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• disproportionate dwarf_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0002427I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• lipodystrophy_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0011174B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• tremors_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000745B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• postnatal growth retardation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0001732I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• abnormal base-excision repair_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0009796I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• ataxia_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001393B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• increased cellular sensitivity to gamma-irradiation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0002007B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• increased cellular sensitivity to ultraviolet irradiation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>
  http://metadb.riken.jp/0008410I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhErcc6tm1Gvh
• disproportionate dwarf_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0002427I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• abnormal gait_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001406B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• abnormal retinal outer nuclear layer morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0003731B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• abnormal retina morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001325B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• postnatal growth retardation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001732B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• kyphosis_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000160B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• abnormal epiphyseal plate morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0006395B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• increased cellular sensitivity to ultraviolet irradiation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0008410I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• premature aging_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0003786B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• postnatal growth retardation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001732I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• long limbs_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000548B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• abnormal limb posture_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0004263B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• abnormal base-excision repair_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0009796I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• abnormal abdominal fat pad morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000010B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• short stride length_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001407B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• retinal degeneration_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>
  http://metadb.riken.jp/0001326I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhErcc6tm1Gvh
• increased cellular sensitivity to ultraviolet irradiation_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0008410I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• hepatic steatosis_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0002628B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• cachexia_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0005150I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• abnormal retinal inner nuclear layer morphology_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0003733B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• perinatal lethality, incomplete penetrance_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpc<tm1Ecf>/Xpc<tm1Ecf>
  http://metadb.riken.jp/0011090I129129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpctm1EcfXpctm1EcfXpctm1EcfErcc6tm1Gvh
• perinatal lethality, incomplete penetrance_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0011090I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• hypoglycemia_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0000189B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh
• increased cellular sensitivity to ultraviolet irradiation_Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0008410I129P2OlaHsdC57BL6JXpatm1HvsXpatm1HvsXpatm1Hvs
• postnatal lethality, complete penetrance_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0011085I129P2OlaHsdC57BL6JErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsErcc6tm1GvhXpatm1Hvs
• retinal degeneration_Ercc6<tm1Gvh>/Ercc6<tm1Gvh>,Xpa<tm1Hvs>/Xpa<tm1Hvs>
  http://metadb.riken.jp/0001326B6129P2Xpatm1HvsErcc6tm1GvhErcc6tm1GvhErcc6tm1GvhXpatm1HvsXpatm1HvsXpatm1HvsErcc6tm1Gvh