myoclonus_Epm2a<tm1Kzy>/Epm2a<tm1Kzy>

http://metadb.riken.jp/0000243I129P2OlaHsdC57BL6JEpm2atm1KzyEpm2atm1KzyEpm2atm1Kzy

myoclonus_Epm2a<tm1Kzy>/Epm2a<tm1Kzy>

表現型アノテーション

MGI marker

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

• epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:1341085

遺伝子型

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

• Epm2a<tm1Kzy>/Epm2a<tm1Kzy>

アレルシンボル

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

• Epm2a<tm1Kzy>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6J

MP annotation

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

• myoclonus
  http://purl.obolibrary.org/obo/MP_0000243

文献

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

• Subramaniam. Ganesh, et.al., Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice., Human molecular genetics, 2002, 11
  http://rdf.ncbi.nlm.nih.gov/pubmed/12019206