osteopetrosis_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>

http://metadb.riken.jp/0000067I129S1Sv129X1SvJC57BL6Clcn7tm2TjjClcn7tm2TjjClcn7tm2Tjj

osteopetrosis_Clcn7<tm2Tjj>/Clcn7<tm2Tjj>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• chloride channel, voltage-sensitive 7
  http://metadb.riken.jp/db/mgi_rdf/MGI:1347048

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Clcn7<tm2Tjj>/Clcn7<tm2Tjj>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Clcn7<tm2Tjj>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• osteopetrosis
  http://purl.obolibrary.org/obo/MP_0000067

文献

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

• 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