abnormal lysosome physiology_Clcn7<tm4.1Tjj>/Clcn7<tm4.1Tjj>

http://metadb.riken.jp/0003172I129S1Sv129S4SvJaeSor129X1SvJClcn7tm41TjjClcn7tm41TjjClcn7tm41Tjj

abnormal lysosome physiology_Clcn7<tm4.1Tjj>/Clcn7<tm4.1Tjj>

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<tm4.1Tjj>/Clcn7<tm4.1Tjj>

アレルシンボル

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

• Clcn7<tm4.1Tjj>

遺伝的背景

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

• involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

MP annotation

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

• abnormal lysosome physiology
  http://purl.obolibrary.org/obo/MP_0003172

文献

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

• Stefanie. Weinert, et.al., Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation., Science (New York, N.Y.), 2010, 328
  http://rdf.ncbi.nlm.nih.gov/pubmed/20430974