embryonic lethality, complete penetrance_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>

http://metadb.riken.jp/0011092I129S4SvJaeC57BL6LbricJLbricJTm7sf2tm1FdpTm7sf2tm1FdpTm7sf2tm1FdpLbricJ

embryonic lethality, complete penetrance_Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>

表現型アノテーション

MGI marker

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

• transmembrane 7 superfamily member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1920416
• lamin B receptor
  http://metadb.riken.jp/db/mgi_rdf/MGI:2138281

遺伝子型

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

• Lbr<ic-J>/Lbr<ic-J>,Tm7sf2<tm1Fdp>/Tm7sf2<tm1Fdp>

アレルシンボル

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

• Tm7sf2<tm1Fdp>|Lbr<ic-J>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6

MP annotation

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

• complete embryonic lethality
  http://purl.obolibrary.org/obo/MP_0011092

文献

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

• Christopher A. Wassif, et.al., HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17403717