abnormal cone electrophysiology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>

http://metadb.riken.jp/0004022I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs

abnormal cone electrophysiology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>

表現型アノテーション

MGI marker

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

• Bardet-Biedl syndrome 1 (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1277215

遺伝子型

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

• Bbs1<tm1Vcs>/Bbs1<tm1Vcs>

アレルシンボル

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

• Bbs1<tm1Vcs>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• abnormal cone electrophysiology
  http://purl.obolibrary.org/obo/MP_0004022

文献

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

• Roger E. Davis, et.al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104
  http://rdf.ncbi.nlm.nih.gov/pubmed/18032602