ataxia_Cers1<fln>/Cers1<to>

http://metadb.riken.jp/0001393ICB17FVBNNODCers1flnCers1toCers1toCers1fln

ataxia_Cers1<fln>/Cers1<to>

表現型アノテーション

MGI marker

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

• ceramide synthase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2136690

遺伝子型

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

• Cers1<fln>/Cers1<to>

アレルシンボル

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

• Cers1<to>|Cers1<fln>

遺伝的背景

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

• involves: CB17 * FVB/N * NOD

MP annotation

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

• ataxia
  http://purl.obolibrary.org/obo/MP_0001393

文献

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

• Lihong. Zhao, et.al., A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation., PLoS genetics, 2011, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/21625621