neonatal lethality, complete penetrance_Orai1<tm1Fesk>/Orai1<tm1Fesk>

http://metadb.riken.jp/0011087C57BL6Orai1tm1FeskOrai1tm1FeskOrai1tm1FeskOrai1tm1Fesk

neonatal lethality, complete penetrance_Orai1<tm1Fesk>/Orai1<tm1Fesk>

表現型アノテーション

MGI marker

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

• ORAI calcium release-activated calcium modulator 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1925542

遺伝子型

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

• Orai1<tm1Fesk>/Orai1<tm1Fesk>

アレルシンボル

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

• Orai1<tm1Fesk>

遺伝的背景

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

• C57BL/6-Orai1<tm1Fesk>

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

• Wolfgang. Bergmeier, et.al., R93W mutation in Orai1 causes impaired calcium influx in platelets., Blood, 2009, 113
  http://rdf.ncbi.nlm.nih.gov/pubmed/18952890