accumulation of giant lysosomes in kidney/renal tubule cells_Neu1<tm1Adz>/Neu1<tm1Adz>

http://metadb.riken.jp/0005060EI129S1SvC57BL6orI129S1SvNMRINeu1tm1AdzNeu1tm1AdzNeu1tm1Adz

accumulation of giant lysosomes in kidney/renal tubule cells_Neu1<tm1Adz>/Neu1<tm1Adz>

表現型アノテーション

MGI marker

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

• neuraminidase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:97305

遺伝子型

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

• Neu1<tm1Adz>/Neu1<tm1Adz>

アレルシンボル

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

• Neu1<tm1Adz>

遺伝的背景

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

• either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * NMRI)

MP annotation

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

• accumulation of giant lysosomes in kidney/renal tubule cells
  http://purl.obolibrary.org/obo/MP_0005060

文献

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

• Natalie. de Geest, et.al., Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice., Human molecular genetics, 2002, 11
  http://rdf.ncbi.nlm.nih.gov/pubmed/12023988