abnormal iris morphology_Itpr1<em1Drf>/Itpr1<+>

http://metadb.riken.jp/0001322NSItpr1em1DrfItpr1Itpr1Itpr1em1Drf

abnormal iris morphology_Itpr1<em1Drf>/Itpr1<+>

表現型アノテーション

MGI marker

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

• inositol 1,4,5-trisphosphate receptor 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:96623

遺伝子型

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

• Itpr1<em1Drf>/Itpr1<+>

アレルシンボル

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

• Itpr1<+>|Itpr1<em1Drf>

遺伝的背景

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

• Not Specified

MP annotation

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

• abnormal iris morphology
  http://purl.obolibrary.org/obo/MP_0001322

文献

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

• Meriel. McEntagart, et.al., A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect., American journal of human genetics, 2016, 98
  http://rdf.ncbi.nlm.nih.gov/pubmed/27108798