neonatal lethality, complete penetrance_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>

http://metadb.riken.jp/0011087I129P2OlaHsdDhcr7tm1GstDhcr7tm1GstDhcr7tm1Gst

neonatal lethality, complete penetrance_Dhcr7<tm1Gst>/Dhcr7<tm1Gst>

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<tm1Gst>/Dhcr7<tm1Gst>

アレルシンボル

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

• Dhcr7<tm1Gst>

遺伝的背景

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

• involves: 129P2/OlaHsd

MP annotation

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

• complete neonatal lethality
  http://purl.obolibrary.org/obo/MP_0011087

文献

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

• Hongwei. Yu, et.al., Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice., BMC developmental biology, 2007, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/17408495
• 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