abnormal photoreceptor outer segment morphology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>

http://metadb.riken.jp/0003729I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs

abnormal photoreceptor outer segment morphology_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 photoreceptor outer segment morphology
  http://purl.obolibrary.org/obo/MP_0003729

文献

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

• Poppy. Datta, et.al., Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome., Proceedings of the National Academy of Sciences of the United States of America, 2015, 112
  http://rdf.ncbi.nlm.nih.gov/pubmed/26216965