abnormal first pharyngeal arch morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>

http://metadb.riken.jp/0006337I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd

abnormal first pharyngeal arch morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>

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 H (eag-related), member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1341722

遺伝子型

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

• Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>

アレルシンボル

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

• Kcnh2<tm1.1Hjd>

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

• abnormal first pharyngeal arch morphology
  http://purl.obolibrary.org/obo/MP_0006337

文献

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

• Guo Qi. Teng, et.al., Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality., Circulation research, 2008, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/18948620