lysosomal protein accumulation_Galns<tm3Toma>/Galns<tm3Toma>

http://metadb.riken.jp/0005059I129X1SvJC57BL6JGalnstm3TomaGalnstm3TomaGalnstm3Toma

lysosomal protein accumulation_Galns<tm3Toma>/Galns<tm3Toma>

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<tm3Toma>/Galns<tm3Toma>

アレルシンボル

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

• Galns<tm3Toma>

遺伝的背景

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

• involves: 129X1/SvJ * 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

• Shunji. Tomatsu, et.al., Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins., Molecular genetics and metabolism, 2007, 91
  http://rdf.ncbi.nlm.nih.gov/pubmed/17498992