ataxia_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>

http://metadb.riken.jp/0001393I129S1Sv129S4SvJae129X1SvJC57BL6JAbcd1tm1KdsYAbcd2tm1ApujAbcd2tm1ApujAbcd2tm1ApujAbcd1tm1Kds

ataxia_Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>

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 D (ALD), member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1349467
• ATP-binding cassette, sub-family D (ALD), member 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1349215

遺伝子型

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

• Abcd1<tm1Kds>/Y,Abcd2<tm1Apuj>/Abcd2<tm1Apuj>

アレルシンボル

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

• Abcd2<tm1Apuj>|Abcd1<tm1Kds>

遺伝的背景

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

• involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

MP annotation

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

• ataxia
  http://purl.obolibrary.org/obo/MP_0001393

文献

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

• Isidre. Ferrer, et.al., Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage., Human molecular genetics, 2005, 14
  http://rdf.ncbi.nlm.nih.gov/pubmed/16223892