bowed tibia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>

http://metadb.riken.jp/0004358I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp

bowed tibia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>

表現型アノテーション

MGI marker

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

• sterol-C5-desaturase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1353611

遺伝子型

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

• Sc5d<tm1Fdp>/Sc5d<tm1Fdp>

アレルシンボル

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

• Sc5d<tm1Fdp>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• bowed tibia
  http://purl.obolibrary.org/obo/MP_0004358

文献

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

• Patrycja A. Krakowiak, et.al., Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency., Human molecular genetics, 2003, 12
  http://rdf.ncbi.nlm.nih.gov/pubmed/12812989