tonic-clonic seizures_Pcmt1<tm1Scl>/Pcmt1<tm1Scl>

http://metadb.riken.jp/0003997I129S4SvJaeC57BL6Pcmt1tm1SclPcmt1tm1SclPcmt1tm1Scl

tonic-clonic seizures_Pcmt1<tm1Scl>/Pcmt1<tm1Scl>

表現型アノテーション

MGI marker

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

• protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:97502

遺伝子型

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

• Pcmt1<tm1Scl>/Pcmt1<tm1Scl>

アレルシンボル

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

• Pcmt1<tm1Scl>

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

• tonic-clonic seizures
  http://purl.obolibrary.org/obo/MP_0003997

文献

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

• E. Kim, et.al., Deficiency of a protein-repair enzyme results in the accumulation of altered proteins, retardation of growth, and fatal seizures in mice., Proceedings of the National Academy of Sciences of the United States of America, 1997, 94
  http://rdf.ncbi.nlm.nih.gov/pubmed/9177182