abnormal renal tubule epithelial cell primary cilium morphology_Nphp3<pcy>/Nphp3<tm1Cbe>

http://metadb.riken.jp/0011066IC57BL6CD1KKUpjNphp3pcyNphp3tm1CbeNphp3pcyNphp3tm1Cbe

abnormal renal tubule epithelial cell primary cilium morphology_Nphp3<pcy>/Nphp3<tm1Cbe>

表現型アノテーション

MGI marker

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

• nephronophthisis 3 (adolescent)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1921275

遺伝子型

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

• Nphp3<pcy>/Nphp3<tm1Cbe>

アレルシンボル

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

• Nphp3<pcy>|Nphp3<tm1Cbe>

遺伝的背景

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

• involves: C57BL/6 * CD-1 * KK/Upj

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

• Carsten. Bergmann, et.al., Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., American journal of human genetics, 2008, 82
  http://rdf.ncbi.nlm.nih.gov/pubmed/18371931