dilated distal convoluted tubules_Fgfr2<tm2.3Dsn>/Fgfr2<+>

http://metadb.riken.jp/0009051I129C57BL6FVBNFgfr2tm23DsnFgfr2Fgfr2Fgfr2tm23Dsn

dilated distal convoluted tubules_Fgfr2<tm2.3Dsn>/Fgfr2<+>

表現型アノテーション

MGI marker

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

• fibroblast growth factor receptor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:95523

遺伝子型

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

• Fgfr2<tm2.3Dsn>/Fgfr2<+>

アレルシンボル

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

• Fgfr2<+>|Fgfr2<tm2.3Dsn>

遺伝的背景

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

• involves: 129 * C57BL/6 * FVB/N

MP annotation

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

• dilated distal convoluted tubules
  http://purl.obolibrary.org/obo/MP_0009051

文献

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

• M K. Hajihosseini, et.al., A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes., Proceedings of the National Academy of Sciences of the United States of America, 2001, 98
  http://rdf.ncbi.nlm.nih.gov/pubmed/11274405