abnormal retinal outer nuclear layer morphology_Nphp4<nmf192>/Nphp4<nmf192>

http://metadb.riken.jp/0003731I129C57BL6JNphp4nmf192Nphp4nmf192Nphp4nmf192

abnormal retinal outer nuclear layer morphology_Nphp4<nmf192>/Nphp4<nmf192>

表現型アノテーション

MGI marker

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

• nephronophthisis 4 (juvenile) homolog (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2384210

遺伝子型

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

• Nphp4<nmf192>/Nphp4<nmf192>

アレルシンボル

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

• Nphp4<nmf192>

遺伝的背景

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

• involves: 129 * C57BL/6J

MP annotation

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

• abnormal retinal outer nuclear layer morphology
  http://purl.obolibrary.org/obo/MP_0003731

文献

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

• Jungyeon. Won, et.al., NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21078623