abnormal ocular fundus morphology_Sptssb<Tvrm122>/Sptssb<+>

http://metadb.riken.jp/0002864NSSptssbTvrm122SptssbSptssbSptssbTvrm122

abnormal ocular fundus morphology_Sptssb<Tvrm122>/Sptssb<+>

表現型アノテーション

MGI marker

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

• serine palmitoyltransferase, small subunit B
  http://metadb.riken.jp/db/mgi_rdf/MGI:1913433

遺伝子型

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

• Sptssb<Tvrm122>/Sptssb<+>

アレルシンボル

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

• Sptssb<+>|Sptssb<Tvrm122>

遺伝的背景

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

• Not Specified

MP annotation

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

• abnormal ocular fundus morphology
  http://purl.obolibrary.org/obo/MP_0002864

文献

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

• Lihong. Zhao, et.al., Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration., Proceedings of the National Academy of Sciences of the United States of America, 2015, 112
  http://rdf.ncbi.nlm.nih.gov/pubmed/26438849