ocular hypertelorism_Ptpn11<tm1Bgn>/Ptpn11<+>

http://metadb.riken.jp/0001300I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn

ocular hypertelorism_Ptpn11<tm1Bgn>/Ptpn11<+>

表現型アノテーション

MGI marker

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

• protein tyrosine phosphatase, non-receptor type 11
  http://metadb.riken.jp/db/mgi_rdf/MGI:99511

遺伝子型

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

• Ptpn11<tm1Bgn>/Ptpn11<+>

アレルシンボル

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

• Ptpn11<+>|Ptpn11<tm1Bgn>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6

MP annotation

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

• ocular hypertelorism
  http://purl.obolibrary.org/obo/MP_0001300

文献

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

• Toshiyuki. Araki, et.al., Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106
  http://rdf.ncbi.nlm.nih.gov/pubmed/19251646