prenatal lethality, incomplete penetrance_Kcnq2<tm1.1Naas>/Kcnq2<tm1.1Naas>

http://metadb.riken.jp/0011101I129S1Sv129X1SvJC57BL6Kcnq2tm11NaasKcnq2tm11NaasKcnq2tm11Naas

prenatal lethality, incomplete penetrance_Kcnq2<tm1.1Naas>/Kcnq2<tm1.1Naas>

表現型アノテーション

MGI marker

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

• potassium voltage-gated channel, subfamily Q, member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1309503

遺伝子型

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

• Kcnq2<tm1.1Naas>/Kcnq2<tm1.1Naas>

アレルシンボル

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

• Kcnq2<tm1.1Naas>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• partial prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011101

文献

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

• Nanda A. Singh, et.al., Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization., The Journal of physiology, 2008, 586
  http://rdf.ncbi.nlm.nih.gov/pubmed/18483067