atrioventricular septal defect_Ift172<avc1>/Ift172<avc1>

http://metadb.riken.jp/0010412IC57BL6JIft172avc1Ift172avc1Ift172avc1

atrioventricular septal defect_Ift172<avc1>/Ift172<avc1>

表現型アノテーション

MGI marker

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

• intraflagellar transport 172
  http://metadb.riken.jp/db/mgi_rdf/MGI:2682064

遺伝子型

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

• Ift172<avc1>/Ift172<avc1>

アレルシンボル

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

• Ift172<avc1>

遺伝的背景

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

• involves: C57BL/6J

MP annotation

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

• atrioventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010412

文献

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

• Joshua M. Friedland-Little, et.al., A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21653639