Purkinje cell degeneration_Smpd1<tm1Wst>/Smpd1<tm1Wst>

http://metadb.riken.jp/0000876I129P2OlaHsdC57BL6Smpd1tm1WstSmpd1tm1WstSmpd1tm1Wst

Purkinje cell degeneration_Smpd1<tm1Wst>/Smpd1<tm1Wst>

表現型アノテーション

MGI marker

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

• sphingomyelin phosphodiesterase 1, acid lysosomal
  http://metadb.riken.jp/db/mgi_rdf/MGI:98325

遺伝子型

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

• Smpd1<tm1Wst>/Smpd1<tm1Wst>

アレルシンボル

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

• Smpd1<tm1Wst>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

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

• Purkinje cell degeneration
  http://purl.obolibrary.org/obo/MP_0000876

文献

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

• B. Otterbach, et.al., Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)., Cell, 1995, 81
  http://rdf.ncbi.nlm.nih.gov/pubmed/7600574