abnormal cell physiology_Brpf1<tm1c(EUCOMM)Wtsi>/Brpf1<tm1c(EUCOMM)Wtsi>,Emx1<tm1(cre)Krj>/Emx1<+>

http://metadb.riken.jp/0005621I129S2SvPasC57BL6JC57BL6NBrpf1tm1cEUCOMMWtsiBrpf1tm1cEUCOMMWtsiEmx1tm1creKrjEmx1Brpf1tm1cEUCOMMWtsiEmx1Emx1tm1creKrj

abnormal cell physiology_Brpf1<tm1c(EUCOMM)Wtsi>/Brpf1<tm1c(EUCOMM)Wtsi>,Emx1<tm1(cre)Krj>/Emx1<+>

表現型アノテーション

MGI marker

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

• bromodomain and PHD finger containing, 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1926033
• empty spiracles homeobox 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95387

遺伝子型

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

• Brpf1<tm1c(EUCOMM)Wtsi>/Brpf1<tm1c(EUCOMM)Wtsi>,Emx1<tm1(cre)Krj>/Emx1<+>

アレルシンボル

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

• Brpf1<tm1c(EUCOMM)Wtsi>|Emx1<+>|Emx1<tm1(cre)Krj>

遺伝的背景

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

• involves: 129S2/SvPas * C57BL/6J * C57BL/6N

MP annotation

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

• abnormal cell physiology
  http://purl.obolibrary.org/obo/MP_0005621

文献

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

• Kezhi. Yan, et.al., Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation., American journal of human genetics, 2017, 100
  http://rdf.ncbi.nlm.nih.gov/pubmed/27939640