Purkinje cell degeneration_Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

http://metadb.riken.jp/0000876NSSacstm1NCOMMfgcSacstm1NCOMMfgcSacstm1NCOMMfgc

Purkinje cell degeneration_Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

表現型アノテーション

MGI marker

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

• sacsin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1354724

遺伝子型

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

• Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

アレルシンボル

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

• Sacs<tm1(NCOM)Mfgc>

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

• Purkinje cell degeneration
  http://purl.obolibrary.org/obo/MP_0000876

文献

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

• Martine. Girard, et.al., Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)., Proceedings of the National Academy of Sciences of the United States of America, 2012, 109
  http://rdf.ncbi.nlm.nih.gov/pubmed/22307627
• Roxanne. Larivière, et.al., Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25260547