premature death_Psap<tm2Suz>/Psap<tm2Suz>

http://metadb.riken.jp/0002083I129SSvEvC57BL6JPsaptm2SuzPsaptm2SuzPsaptm2Suz

premature death_Psap<tm2Suz>/Psap<tm2Suz>

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<tm2Suz>/Psap<tm2Suz>

アレルシンボル

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

• Psap<tm2Suz>

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

• premature death
  http://purl.obolibrary.org/obo/MP_0002083

文献

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

• J. Matsuda, et.al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse., Human molecular genetics, 2001, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/11371512
• J. Matsuda, et.al., Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor., Human molecular genetics, 2001, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/11726558
• Ying. Sun, et.al., Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23446636