abnormal renal tubule epithelial cell primary cilium morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>

http://metadb.riken.jp/0011066I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch

abnormal renal tubule epithelial cell primary cilium morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>

表現型アノテーション

MGI marker

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

• inositol polyphosphate-5-phosphatase E
  http://metadb.riken.jp/db/mgi_rdf/MGI:1927753

遺伝子型

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

• Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>

アレルシンボル

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

• Inpp5e<tm1.2Ssch>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• abnormal renal tubule epithelial cell primary cilium morphology
  http://purl.obolibrary.org/obo/MP_0011066

文献

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

• Monique. Jacoby, et.al., INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse., Nature genetics, 2009, 41
  http://rdf.ncbi.nlm.nih.gov/pubmed/19668215