uveal coloboma_Pax2<M1Bpb>/Pax2<M1Bpb>

http://metadb.riken.jp/0012533C57BL6Pax2M1BpbPax2M1BpbPax2M1BpbPax2M1Bpb

uveal coloboma_Pax2<M1Bpb>/Pax2<M1Bpb>

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<M1Bpb>/Pax2<M1Bpb>

アレルシンボル

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

• Pax2<M1Bpb>

遺伝的背景

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

• C57BL/6-Pax2<M1Bpb>

MP annotation

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

• uveal coloboma
  http://purl.obolibrary.org/obo/MP_0012533

文献

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

• Ramakrishna P. Alur, et.al., Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human., PLoS genetics, 2010, 6
  http://rdf.ncbi.nlm.nih.gov/pubmed/20221250