deafness_Kcnq1<tm2Kpfe>/Kcnq1<tm2Kpfe>

http://metadb.riken.jp/0001967I129S1Sv129X1SvJC57BL6FVBNKcnq1tm2KpfeKcnq1tm2KpfeKcnq1tm2Kpfe

deafness_Kcnq1<tm2Kpfe>/Kcnq1<tm2Kpfe>

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 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:108083

遺伝子型

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

• Kcnq1<tm2Kpfe>/Kcnq1<tm2Kpfe>

アレルシンボル

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

• Kcnq1<tm2Kpfe>

遺伝的背景

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

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

MP annotation

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

• deafness
  http://purl.obolibrary.org/obo/MP_0001967

文献

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

• Mathew C. Casimiro, et.al., Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans., Genomics, 2004, 84
  http://rdf.ncbi.nlm.nih.gov/pubmed/15498462