lysosomal protein accumulation_Galns<tm2(GALNS)Toma>/Galns<tm2(GALNS)Toma>

http://metadb.riken.jp/0005059I129X1SvJC57BL6Galnstm2GALNSTomaGalnstm2GALNSTomaGalnstm2GALNSToma

lysosomal protein accumulation_Galns<tm2(GALNS)Toma>/Galns<tm2(GALNS)Toma>

表現型アノテーション

MGI marker

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

• galactosamine (N-acetyl)-6-sulfate sulfatase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1355303

遺伝子型

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

• Galns<tm2(GALNS)Toma>/Galns<tm2(GALNS)Toma>

アレルシンボル

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

• Galns<tm2(GALNS)Toma>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6

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

• Shunji. Tomatsu, et.al., Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase., Human molecular genetics, 2005, 14
  http://rdf.ncbi.nlm.nih.gov/pubmed/16219627