abnormal retinal photoreceptor morphology_Whrn<tm1Tili>/Whrn<tm1Tili>

http://metadb.riken.jp/0001004I129S1Sv129X1SvJC57BL6Whrntm1TiliWhrntm1TiliWhrntm1Tili

abnormal retinal photoreceptor morphology_Whrn<tm1Tili>/Whrn<tm1Tili>

表現型アノテーション

MGI marker

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

• whirlin
  http://metadb.riken.jp/db/mgi_rdf/MGI:2682003

遺伝子型

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

• Whrn<tm1Tili>/Whrn<tm1Tili>

アレルシンボル

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

• Whrn<tm1Tili>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• abnormal retinal photoreceptor morphology
  http://purl.obolibrary.org/obo/MP_0001004

文献

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

• Jun. Yang, et.al., Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss., PLoS genetics, 2010, 6
  http://rdf.ncbi.nlm.nih.gov/pubmed/20502675