abnormal neurite morphology_Tg(CAG-SPTLC1*C133W)8EAmcc/0

http://metadb.riken.jp/0008415IC3HC57BL6TgCAGSPTLC1C133W8EAmcc0TgCAGSPTLC1C133W8EAmcc

abnormal neurite morphology_Tg(CAG-SPTLC1*C133W)8EAmcc/0

表現型アノテーション

MGI marker

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

• transgene insertion 8E, Alexander McCampbell
  http://metadb.riken.jp/db/mgi_rdf/MGI:4418349

遺伝子型

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

• Tg(CAG-SPTLC1*C133W)8EAmcc/0

アレルシンボル

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

• Tg(CAG-SPTLC1*C133W)8EAmcc

遺伝的背景

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

• involves: C3H * C57BL/6

MP annotation

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

• abnormal neurite morphology
  http://purl.obolibrary.org/obo/MP_0008415

文献

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

• Alexander. McCampbell, et.al., Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy., Human molecular genetics, 2005, 14
  http://rdf.ncbi.nlm.nih.gov/pubmed/16210380