preweaning lethality, incomplete penetrance_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>

http://metadb.riken.jp/0011110I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg

preweaning lethality, incomplete penetrance_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>

表現型アノテーション

MGI marker

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

• ubiquitin protein ligase E3B
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891295

遺伝子型

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

• Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>

アレルシンボル

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

• Ube3b<Gt(RRJ142)Byg>

遺伝的背景

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

• involves: 129P2/OlaHsd * CBA/Ca

MP annotation

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

• partial preweaning lethality
  http://purl.obolibrary.org/obo/MP_0011110

文献

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

• Lina. Basel-Vanagaite, et.al., Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome., American journal of human genetics, 2012, 91
  http://rdf.ncbi.nlm.nih.gov/pubmed/23200864