Purkinje cell degeneration_Psap<tm1Juma>/Psap<tm1Juma>

http://metadb.riken.jp/0000876I129SSvEvC57BL6JPsaptm1JumaPsaptm1JumaPsaptm1Juma

Purkinje cell degeneration_Psap<tm1Juma>/Psap<tm1Juma>

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

遺伝子型

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

• Psap<tm1Juma>/Psap<tm1Juma>

アレルシンボル

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

• Psap<tm1Juma>

遺伝的背景

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

• involves: 129S/SvEv * C57BL/6J

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

• Junko. Matsuda, et.al., Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse., Human molecular genetics, 2004, 13
  http://rdf.ncbi.nlm.nih.gov/pubmed/15345707