abnormal cholesterol homeostasis_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>

http://metadb.riken.jp/0005278I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp

abnormal cholesterol homeostasis_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>

表現型アノテーション

MGI marker

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

• 7-dehydrocholesterol reductase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1298378

遺伝子型

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

• Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>

アレルシンボル

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

• Dhcr7<tm1Fdp>

遺伝的背景

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

• involves: 129S4/SvJae

MP annotation

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

• abnormal cholesterol homeostasis
  http://purl.obolibrary.org/obo/MP_0005278

文献

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

• C A. Wassif, et.al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome., Human molecular genetics, 2001, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/11230174
• G J. Patti, et.al., Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome., Neuroscience, 2010, 170
  http://rdf.ncbi.nlm.nih.gov/pubmed/20670678