B U. Fitzky, et.al., 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome., The Journal of clinical investigation, 2001, 108

http://rdf.ncbi.nlm.nih.gov/pubmed/11560960

B U. Fitzky, et.al., 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome., The Journal of clinical investigation, 2001, 108

pubmed

allele

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

• Dhcr7<tm1Gst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387406

表現型アノテーション

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

• respiratory failure_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001953I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• decreased brain cholesterol level_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0010161I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal lung morphology_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001175I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• no suckling reflex_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001435I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• decreased liver cholesterol level_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0010026I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal enzyme/coenzyme level_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0005319I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• distended urinary bladder_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0000539I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal lung development_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001176I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• decreased birth weight_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0009674I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• neonatal lethality, complete penetrance_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0011087I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal cholesterol homeostasis_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0005278I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal lipid level_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001547I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• cleft secondary palate_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0009890I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• abnormal enzyme/coenzyme activity_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0005584I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst
• hypoactivity_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>
  http://metadb.riken.jp/0001402I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst

class

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

• Dhcr7<tm1Gst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387406

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD11993
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD11993