postnatal lethality, complete penetrance_Fbn1<tm1Rmz>/Fbn1<tm1Rmz>

http://metadb.riken.jp/0011085I129S4SvJaeC57BL6JFbn1tm1RmzFbn1tm1RmzFbn1tm1Rmz

postnatal lethality, complete penetrance_Fbn1<tm1Rmz>/Fbn1<tm1Rmz>

表現型アノテーション

MGI marker

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

• fibrillin 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95489

遺伝子型

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

• Fbn1<tm1Rmz>/Fbn1<tm1Rmz>

アレルシンボル

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

• Fbn1<tm1Rmz>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6J

MP annotation

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

• complete postnatal lethality
  http://purl.obolibrary.org/obo/MP_0011085

文献

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

• Enid R. Neptune, et.al., Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome., Nature genetics, 2003, 33
  http://rdf.ncbi.nlm.nih.gov/pubmed/12598898
• L. Pereira, et.al., Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome., Nature genetics, 1997, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/9326947