lipofuscinosis_Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>

http://metadb.riken.jp/0008842I129129S4SvJaeSor129S6SvEvTacC57BL6C57BL6NAbca4tm21KpalAbca4tm21KpalAbca4tm21Kpal

lipofuscinosis_Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>

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

遺伝子型

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

• Abca4<tm2.1Kpal>/Abca4<tm2.1Kpal>

アレルシンボル

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

• Abca4<tm2.1Kpal>

遺伝的背景

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

• involves: 129 * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * C57BL/6N

MP annotation

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

• lipofuscinosis
  http://purl.obolibrary.org/obo/MP_0008842

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