U. Kornak, et.al., Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man., Cell, 2001, 104

http://rdf.ncbi.nlm.nih.gov/pubmed/11207362

U. Kornak, et.al., Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man., Cell, 2001, 104

pubmed

allele

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

• Clcn7<tm2Tjj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387676
• Clcn7<tm1Tjj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387675

class

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

• Clcn7<tm2Tjj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387676
• Clcn7<tm1Tjj>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387675

表現型アノテーション

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

• retinal degeneration_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0001326I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal bone marrow cavity morphology_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0000065I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• short limbs_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0000547I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• postnatal lethality, incomplete penetrance_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0011086I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• osteopetrosis_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0000067I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• optic nerve degeneration_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0006219I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• failure of tooth eruption_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0000121I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• abnormal osteoclast physiology_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0001541I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• postnatal lethality, incomplete penetrance_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0011086I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal osteoclast morphology_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0004982I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• decreased body size_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0001265I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• abnormal osteoclast morphology_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0004982I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• osteopetrosis_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0000067I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• failure of tooth eruption_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0000121I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal bone marrow cavity morphology_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0000065I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• abnormal bone ossification_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0008271I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• increased osteoblast cell number_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0004988I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• short limbs_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0000547I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal head morphology_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0000432I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• retinal degeneration_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0001326I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• decreased body size_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0001265I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal bone ossification_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0008271I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• abnormal head morphology_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>
  http://metadb.riken.jp/0000432I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj
• increased osteoblast cell number_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0004988I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• abnormal osteoclast physiology_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0001541I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• optic nerve degeneration_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0006219I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj
• decreased bone resorption_Clcn7<tm1Tjj>/Clcn7<tm1Tjj>
  http://metadb.riken.jp/0004993I129P2OlaHsdC57BL6Clcn7tm1TjjClcn7tm1TjjClcn7tm1Tjj

トランスクリプトームデータ

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

• CD40604
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD40604