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

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

pubmed

allele

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

• Dhcr7<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2181641

表現型アノテーション

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

• decreased brain size_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0000774I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• fetal growth retardation_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0004201I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• cyanosis_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001575I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• distended urinary bladder_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0000539I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• no swallowing reflex_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001437I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• decreased cholesterol level_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0003983I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• abnormal vocalization_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001529I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• abnormal nasal cavity morphology_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0002237I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• aspiration_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0002296I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• hypoactivity_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001402I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• abnormal glutamate-mediated receptor currents_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0002886I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• absent gastric milk in neonates_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0009546I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• decreased birth weight_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0009674I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• atelectasis_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001177I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• weakness_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0000746I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• neonatal lethality, complete penetrance_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0011087I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• abnormal cholesterol homeostasis_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0005278I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• palatal shelves fail to meet at midline_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0009888I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp
• abnormal suckling behavior_Dhcr7<tm1Fdp>/Dhcr7<tm1Fdp>
  http://metadb.riken.jp/0001436I129S4SvJaeDhcr7tm1FdpDhcr7tm1FdpDhcr7tm1Fdp

class

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

• Dhcr7<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2181641

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