abnormal cone electrophysiology_Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>,Gnat1<tm1Clma>/Gnat1<tm1Clma>

http://metadb.riken.jp/0004022I129C57BL6C57BL6NAbca4tm21KpalAbca4tm21KpalGnat1tm1ClmaGnat1tm1ClmaGnat1tm1ClmaAbca4tm21Kpal

abnormal cone electrophysiology_Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>,Gnat1<tm1Clma>/Gnat1<tm1Clma>

表現型アノテーション

MGI marker

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

• ATP-binding cassette, sub-family A (ABC1), member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:109424
• guanine nucleotide binding protein, alpha transducing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95778

遺伝子型

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

• Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>,Gnat1<tm1Clma>/Gnat1<tm1Clma>

アレルシンボル

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

• Gnat1<tm1Clma>|Abca4<tm2.1Kpal>

遺伝的背景

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

• involves: 129 * C57BL/6 * C57BL/6N

MP annotation

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

• abnormal cone electrophysiology
  http://purl.obolibrary.org/obo/MP_0004022

文献

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

• Ning. Zhang, et.al., Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25712131