abnormal eye morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>

http://metadb.riken.jp/0002092I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor

abnormal eye morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>

表現型アノテーション

MGI marker

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

• twist basic helix-loop-helix transcription factor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:104685

遺伝子型

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

• Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>

アレルシンボル

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

• Twist2<tm1(cre)Dor>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6

MP annotation

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

• abnormal eye morphology
  http://purl.obolibrary.org/obo/MP_0002092

文献

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

• Turgut. Tukel, et.al., Homozygous nonsense mutations in TWIST2 cause Setleis syndrome., American journal of human genetics, 2010, 87
  http://rdf.ncbi.nlm.nih.gov/pubmed/20691403