hypoactivity_Snhg14<tm1Alb>/Snhg14<+>,Ube3a<tm1Alb>/Ube3a<+>

http://metadb.riken.jp/0001402I129S7SvEvBrdC57BL6Snhg14tm1AlbSnhg14Ube3atm1AlbUbe3aUbe3aUbe3atm1AlbSnhg14tm1AlbSnhg14

hypoactivity_Snhg14<tm1Alb>/Snhg14<+>,Ube3a<tm1Alb>/Ube3a<+>

表現型アノテーション

MGI marker

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

• ubiquitin protein ligase E3A
  http://metadb.riken.jp/db/mgi_rdf/MGI:105098
• small nucleolar RNA host gene 14
  http://metadb.riken.jp/db/mgi_rdf/MGI:1289201

遺伝子型

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

• Snhg14<tm1Alb>/Snhg14<+>,Ube3a<tm1Alb>/Ube3a<+>

アレルシンボル

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

• Ube3a<+>|Ube3a<tm1Alb>|Snhg14<tm1Alb>|Snhg14<+>

遺伝的背景

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

• involves: 129S7/SvEvBrd * C57BL/6

MP annotation

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

• hypoactivity
  http://purl.obolibrary.org/obo/MP_0001402

文献

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

• Linyan. Meng, et.al., Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model., PLoS genetics, 2013, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/24385930