exencephaly_Shh<tm1Chg>/Shh<tm1Chg>,Tulp3<hhkr>/Tulp3<hhkr>

http://metadb.riken.jp/0000914I129S1Sv129X1SvJC3HHeHC57BL6Shhtm1ChgShhtm1ChgTulp3hhkrTulp3hhkrTulp3hhkrShhtm1Chg

exencephaly_Shh<tm1Chg>/Shh<tm1Chg>,Tulp3<hhkr>/Tulp3<hhkr>

表現型アノテーション

MGI marker

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

• tubby-like protein 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:1329045
• sonic hedgehog
  http://metadb.riken.jp/db/mgi_rdf/MGI:98297

遺伝子型

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

• Shh<tm1Chg>/Shh<tm1Chg>,Tulp3<hhkr>/Tulp3<hhkr>

アレルシンボル

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

• Tulp3<hhkr>|Shh<tm1Chg>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6

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

• Victoria L. Patterson, et.al., Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway., Human molecular genetics, 2009, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/19223390