abnormal proximal convoluted tubule morphology_Rpgrip1l<tm1Urt>/Rpgrip1l<tm1Urt>

http://metadb.riken.jp/0004756I129S1Sv129X1SvJRpgrip1ltm1UrtRpgrip1ltm1UrtRpgrip1ltm1Urt

abnormal proximal convoluted tubule morphology_Rpgrip1l<tm1Urt>/Rpgrip1l<tm1Urt>

表現型アノテーション

MGI marker

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

• Rpgrip1-like
  http://metadb.riken.jp/db/mgi_rdf/MGI:1920563

遺伝子型

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

• Rpgrip1l<tm1Urt>/Rpgrip1l<tm1Urt>

アレルシンボル

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

• Rpgrip1l<tm1Urt>

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 proximal convoluted tubule morphology
  http://purl.obolibrary.org/obo/MP_0004756

文献

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

• Marion. Delous, et.al., The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome., Nature genetics, 2007, 39
  http://rdf.ncbi.nlm.nih.gov/pubmed/17558409