optic nerve hypoplasia_Fkrp<tm1Itl>/Fkrp<tm1Itl>

http://metadb.riken.jp/0006221I129S6SvEvTacC57BL6NFkrptm1ItlFkrptm1ItlFkrptm1Itl

optic nerve hypoplasia_Fkrp<tm1Itl>/Fkrp<tm1Itl>

表現型アノテーション

MGI marker

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

• fukutin related protein
  http://metadb.riken.jp/db/mgi_rdf/MGI:2447586

遺伝子型

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

• Fkrp<tm1Itl>/Fkrp<tm1Itl>

アレルシンボル

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

• Fkrp<tm1Itl>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6N

MP annotation

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

• optic nerve hypoplasia
  http://purl.obolibrary.org/obo/MP_0006221

文献

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

• Yiumo Michael. Chan, et.al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies., Human molecular genetics, 2010, 19
  http://rdf.ncbi.nlm.nih.gov/pubmed/20675713