respiratory distress_Scn4a<m1Aaa>/Scn4a<tm1.1Ljh>

http://metadb.riken.jp/0001954I129S4SvJaeBALBcC57BL6JScn4am1AaaScn4atm11LjhScn4atm11LjhScn4am1Aaa

respiratory distress_Scn4a<m1Aaa>/Scn4a<tm1.1Ljh>

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<m1Aaa>/Scn4a<tm1.1Ljh>

アレルシンボル

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

• Scn4a<tm1.1Ljh>|Scn4a<m1Aaa>

遺伝的背景

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

• involves: 129S4/SvJae * BALB/c * C57BL/6J

MP annotation

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

• respiratory distress
  http://purl.obolibrary.org/obo/MP_0001954

文献

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

• Silvia. Corrochano, et.al., Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis., Brain : a journal of neurology, 2014, 137
  http://rdf.ncbi.nlm.nih.gov/pubmed/25348630