neuron degeneration_Gba<tm2Ggb>/Gba<tm2Ggb>,Psap<tm1Suz>/Psap<tm1Suz>

http://metadb.riken.jp/0003224I129P2OlaHsd129S5SvEvBrdGbatm2GgbGbatm2GgbPsaptm1SuzPsaptm1SuzPsaptm1SuzGbatm2Ggb

neuron degeneration_Gba<tm2Ggb>/Gba<tm2Ggb>,Psap<tm1Suz>/Psap<tm1Suz>

表現型アノテーション

MGI marker

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

• prosaposin
  http://metadb.riken.jp/db/mgi_rdf/MGI:97783
• glucosidase, beta, acid
  http://metadb.riken.jp/db/mgi_rdf/MGI:95665

遺伝子型

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

• Gba<tm2Ggb>/Gba<tm2Ggb>,Psap<tm1Suz>/Psap<tm1Suz>

アレルシンボル

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

• Psap<tm1Suz>|Gba<tm2Ggb>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S5/SvEvBrd

MP annotation

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

• neuron degeneration
  http://purl.obolibrary.org/obo/MP_0003224

文献

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

• Joseph R. Mazzulli, et.al., Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies., Cell, 2011, 146
  http://rdf.ncbi.nlm.nih.gov/pubmed/21700325