increased circulating cholesterol level_Bscl2<tm1.2Gliu>/Bscl2<tm1.2Gliu>

http://metadb.riken.jp/0005178I129129S4SvJaeSorC57BL6FVBNBscl2tm12GliuBscl2tm12GliuBscl2tm12Gliu

increased circulating cholesterol level_Bscl2<tm1.2Gliu>/Bscl2<tm1.2Gliu>

表現型アノテーション

MGI marker

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

• Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1298392

遺伝子型

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

• Bscl2<tm1.2Gliu>/Bscl2<tm1.2Gliu>

アレルシンボル

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

• Bscl2<tm1.2Gliu>

遺伝的背景

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

• involves: 129 * 129S4/SvJaeSor * C57BL/6 * FVB/N

MP annotation

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

• increased circulating cholesterol level
  http://purl.obolibrary.org/obo/MP_0005178

文献

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

• Xin. Cui, et.al., Seipin ablation in mice results in severe generalized lipodystrophy., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21551454
• Min. Jiang, et.al., Lack of testicular seipin causes teratozoospermia syndrome in men., Proceedings of the National Academy of Sciences of the United States of America, 2014, 111
  http://rdf.ncbi.nlm.nih.gov/pubmed/24778225