myoclonus_Ppt1<tm1Hof>/Ppt1<tm1Hof>

http://metadb.riken.jp/0000243I129S6SvEvTacC57BL6JPpt1tm1HofPpt1tm1HofPpt1tm1Hof

myoclonus_Ppt1<tm1Hof>/Ppt1<tm1Hof>

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<tm1Hof>/Ppt1<tm1Hof>

アレルシンボル

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

• Ppt1<tm1Hof>

遺伝的背景

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

• involves: 129S6/SvEvTac * 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

• P. Gupta, et.al., Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice., Proceedings of the National Academy of Sciences of the United States of America, 2001, 98
  http://rdf.ncbi.nlm.nih.gov/pubmed/11717424