abnormal optic nerve morphology_Opa1<Q285X>/Opa1<+>

http://metadb.riken.jp/0001330IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1

abnormal optic nerve morphology_Opa1<Q285X>/Opa1<+>

表現型アノテーション

MGI marker

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

• OPA1, mitochondrial dynamin like GTPase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1921393

遺伝子型

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

• Opa1<Q285X>/Opa1<+>

アレルシンボル

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

• Opa1<Q285X>|Opa1<+>

遺伝的背景

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

• involves: C3HeB/FeJ * C57BL/6JCrl

MP annotation

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

• abnormal optic nerve morphology
  http://purl.obolibrary.org/obo/MP_0001330

文献

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

• Vanessa J. Davies, et.al., Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17428816