exencephaly_Pax2<1Neu>/Pax2<1Neu>

http://metadb.riken.jp/0000914I102C3HPax21NeuPax21NeuPax21Neu

exencephaly_Pax2<1Neu>/Pax2<1Neu>

表現型アノテーション

MGI marker

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

• paired box 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:97486

遺伝子型

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

• Pax2<1Neu>/Pax2<1Neu>

アレルシンボル

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

• Pax2<1Neu>

遺伝的背景

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

• involves: 102 * C3H

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

• J. Favor, et.al., The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney., Proceedings of the National Academy of Sciences of the United States of America, 1996, 93
  http://rdf.ncbi.nlm.nih.gov/pubmed/8943028