abnormal renal protein reabsorption_Clcn5<tm1Gug>/Y

http://metadb.riken.jp/0011445I129S1Sv129X1SvJC57BL6JClcn5tm1GugYClcn5tm1Gug

abnormal renal protein reabsorption_Clcn5<tm1Gug>/Y

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 5
  http://metadb.riken.jp/db/mgi_rdf/MGI:99486

遺伝子型

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

• Clcn5<tm1Gug>/Y

アレルシンボル

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

• Clcn5<tm1Gug>

遺伝的背景

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

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

MP annotation

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

• abnormal renal protein reabsorption
  http://purl.obolibrary.org/obo/MP_0011445

文献

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

• S S. Wang, et.al., Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis., Human molecular genetics, 2000, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/11115837
• Erik I. Christensen, et.al., Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules., Proceedings of the National Academy of Sciences of the United States of America, 2003, 100
  http://rdf.ncbi.nlm.nih.gov/pubmed/12815097