myoclonus_Ppt1<tm1Aj>/Ppt1<tm1Aj>

http://metadb.riken.jp/0000243I129S4SvJaeC57BL6Ppt1tm1AjPpt1tm1AjPpt1tm1Aj

myoclonus_Ppt1<tm1Aj>/Ppt1<tm1Aj>

表現型アノテーション

MGI marker

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

• palmitoyl-protein thioesterase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1298204

遺伝子型

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

• Ppt1<tm1Aj>/Ppt1<tm1Aj>

アレルシンボル

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

• Ppt1<tm1Aj>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6

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

• Anu. Jalanko, et.al., Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons., Neurobiology of disease, 2005, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/15649713