exencephaly_Ift122<sopb>/Ift122<sopb>,Shh<tm1Chg>/Shh<tm1Chg>

http://metadb.riken.jp/0000914I129S1Sv129X1SvJC3HeBFeJC57BL6JIft122sopbIft122sopbShhtm1ChgShhtm1ChgShhtm1ChgIft122sopb

exencephaly_Ift122<sopb>/Ift122<sopb>,Shh<tm1Chg>/Shh<tm1Chg>

表現型アノテーション

MGI marker

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

• sonic hedgehog
  http://metadb.riken.jp/db/mgi_rdf/MGI:98297
• intraflagellar transport 122
  http://metadb.riken.jp/db/mgi_rdf/MGI:1932386

遺伝子型

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

• Ift122<sopb>/Ift122<sopb>,Shh<tm1Chg>/Shh<tm1Chg>

アレルシンボル

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

• Shh<tm1Chg>|Ift122<sopb>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

MP annotation

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

• exencephaly
  http://purl.obolibrary.org/obo/MP_0000914

文献

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

• Jian. Qin, et.al., Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components., Proceedings of the National Academy of Sciences of the United States of America, 2011, 108
  http://rdf.ncbi.nlm.nih.gov/pubmed/21209331