abnormal imprinting_Kcnq1ot1<tm1.1Mjh>/Del(7Ins2-Tel)1Lef

http://metadb.riken.jp/0003787I129C57BL6ICRKcnq1ot1tm11MjhDel7Ins2Tel1LefKcnq1ot1Del7Ins2Tel1LefKcnq1ot1tm11Mjh

abnormal imprinting_Kcnq1ot1<tm1.1Mjh>/Del(7Ins2-Tel)1Lef

表現型アノテーション

MGI marker

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

• KCNQ1 overlapping transcript 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1926855
• deletion, Chr 7, Louis Lefebvre 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3772922

遺伝子型

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

• Kcnq1ot1<tm1.1Mjh>/Del(7Ins2-Tel)1Lef

アレルシンボル

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

• Kcnq1ot1<+>|Del(7Ins2-Tel)1Lef|Kcnq1ot1<tm1.1Mjh>

遺伝的背景

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

• involves: 129 * C57BL/6 * ICR

MP annotation

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

• abnormal imprinting
  http://purl.obolibrary.org/obo/MP_0003787

文献

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

• Rosemary. Oh, et.al., Epigenetic and phenotypic consequences of a truncation disrupting the imprinted domain on distal mouse chromosome 7., Molecular and cellular biology, 2008, 28
  http://rdf.ncbi.nlm.nih.gov/pubmed/18039841