premature death_Mecp2<tm1Jchr>/Y

http://metadb.riken.jp/0002083I129S1Sv129X1SvJMecp2tm1JchrYMecp2tm1Jchr

premature death_Mecp2<tm1Jchr>/Y

表現型アノテーション

MGI marker

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

• methyl CpG binding protein 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:99918

遺伝子型

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

• Mecp2<tm1Jchr>/Y

アレルシンボル

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

• Mecp2<tm1Jchr>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• premature death
  http://purl.obolibrary.org/obo/MP_0002083

文献

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

• Linda S. Weaving, et.al., Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation., American journal of human genetics, 2004, 75
  http://rdf.ncbi.nlm.nih.gov/pubmed/15492925