abnormal retinal pigment epithelium morphology_Clcn2<nmf240>/Clcn2<nmf240>

http://metadb.riken.jp/0005201C57BL6JClcn2nmf240JClcn2nmf240Clcn2nmf240Clcn2nmf240

abnormal retinal pigment epithelium morphology_Clcn2<nmf240>/Clcn2<nmf240>

表現型アノテーション

MGI marker

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

• chloride channel, voltage-sensitive 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:105061

遺伝子型

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

• Clcn2<nmf240>/Clcn2<nmf240>

アレルシンボル

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

• Clcn2<nmf240>

遺伝的背景

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

• C57BL/6J-Clcn2<nmf240>/J

MP annotation

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• Malia M. Edwards, et.al., Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2., Investigative ophthalmology & visual science, 2010, 51
  http://rdf.ncbi.nlm.nih.gov/pubmed/20071672