perinatal lethality, incomplete penetrance_Scn4a<tm1Ljh>/Scn4a<tm1Ljh>

http://metadb.riken.jp/0011090B6129S4Scn4atm1LjhScn4atm1LjhScn4atm1LjhScn4atm1Ljh

perinatal lethality, incomplete penetrance_Scn4a<tm1Ljh>/Scn4a<tm1Ljh>

表現型アノテーション

MGI marker

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

• sodium channel, voltage-gated, type IV, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:98250

遺伝子型

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

• Scn4a<tm1Ljh>/Scn4a<tm1Ljh>

アレルシンボル

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

• Scn4a<tm1Ljh>

遺伝的背景

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

• B6.129S4-Scn4a<tm1Ljh>

MP annotation

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

• partial perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011090

文献

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

• Lawrence J. Hayward, et.al., Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness., The Journal of clinical investigation, 2008, 118
  http://rdf.ncbi.nlm.nih.gov/pubmed/18317596