postnatal lethality, incomplete penetrance_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>,Scn8a<med-jo>/Scn8a<+>

http://metadb.riken.jp/0011086I129S6SvEvTac129X1SvJC57BL6JDBA2WyDiScn1atm11AescScn1atm11AescScn8amedjoScn8aScn1atm11AescScn8amedjoScn8a

postnatal lethality, incomplete penetrance_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>,Scn8a<med-jo>/Scn8a<+>

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 VIII, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:103169
• sodium channel, voltage-gated, type I, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:98246

遺伝子型

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

• Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>,Scn8a<med-jo>/Scn8a<+>

アレルシンボル

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

• Scn1a<tm1.1Aesc>|Scn8a<med-jo>|Scn8a<+>

遺伝的背景

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

• involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

MP annotation

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

• partial postnatal lethality
  http://purl.obolibrary.org/obo/MP_0011086

文献

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

• Nicole A. Hawkins, et.al., Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus., Neurobiology of disease, 2011, 41
  http://rdf.ncbi.nlm.nih.gov/pubmed/21156207