RDF of MGI data
表現型アノテーション
decreased nephron number_Pax2<1Neu>/Pax2<+>
http://metadb.riken.jp/0011290I102C57BL6Pax21NeuPax2Pax2Pax21Neu
decreased nephron number_Pax2<1Neu>/Pax2<+>(表現型アノテーション)
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decreased nephron number_Pax2<1Neu>/Pax2<+>
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<+>
アレルシンボル
http://metadb.riken.jp/db/mgi_rdf/allele_symbol
Pax2<+>|Pax2<1Neu>
遺伝的背景
http://metadb.riken.jp/db/mgi_rdf/genetic_background
involves: 102 * C57BL/6
MP annotation
http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype
decreased nephron number
http://purl.obolibrary.org/obo/MP_0011290
文献
http://purl.org/net/cito/citesAsAuthority
S. Porteous, et.al., Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice., Human molecular genetics, 2000, 9
http://rdf.ncbi.nlm.nih.gov/pubmed/10587573
Maria Teresa. Discenza, et.al., WT1 is a modifier of the Pax2 mutant phenotype: cooperation and interaction between WT1 and Pax2., Oncogene, 2003, 22
http://rdf.ncbi.nlm.nih.gov/pubmed/14603255
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