ocular hypotelorism_Six3<tm3.1Gco>/Six3<+>,Shh<tm1Chg>/Shh<+>

http://metadb.riken.jp/0006197I129S1Sv129X1SvJC57BL6Six3tm31GcoSix3Shhtm1ChgShhShhSix3tm31GcoShhtm1ChgSix3

ocular hypotelorism_Six3<tm3.1Gco>/Six3<+>,Shh<tm1Chg>/Shh<+>

表現型アノテーション

MGI marker

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

• sine oculis-related homeobox 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:102764
• sonic hedgehog
  http://metadb.riken.jp/db/mgi_rdf/MGI:98297

遺伝子型

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

• Six3<tm3.1Gco>/Six3<+>,Shh<tm1Chg>/Shh<+>

アレルシンボル

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

• Shh<+>|Six3<tm3.1Gco>|Shh<tm1Chg>|Six3<+>

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

• ocular hypotelorism
  http://purl.obolibrary.org/obo/MP_0006197

文献

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

• Xin. Geng, et.al., Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly., Developmental cell, 2008, 15
  http://rdf.ncbi.nlm.nih.gov/pubmed/18694563