lysosomal protein accumulation_Clcn7<tm1.1Lex>/Clcn7<tm1.1Lex>

http://metadb.riken.jp/0005059I129S5SvEvBrdC57BL6JClcn7tm11LexClcn7tm11LexClcn7tm11Lex

lysosomal protein accumulation_Clcn7<tm1.1Lex>/Clcn7<tm1.1Lex>

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<tm1.1Lex>/Clcn7<tm1.1Lex>

アレルシンボル

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

• Clcn7<tm1.1Lex>

遺伝的背景

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

• involves: 129S5/SvEvBrd * C57BL/6J

MP annotation

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

• lysosomal protein accumulation
  http://purl.obolibrary.org/obo/MP_0005059

文献

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

• I. Rajan, et.al., An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration., Veterinary pathology, 2011, 48
  http://rdf.ncbi.nlm.nih.gov/pubmed/20448277