dysmyelination_Gjb1<tm1Kwi>/Y,Gjc2<tm1(EGFP)Kwi>/Gjc2<tm1(EGFP)Kwi>

http://metadb.riken.jp/0013438I129P2OlaHsd129S4SvJaeC57BL6Gjb1tm1KwiYGjc2tm1EGFPKwiGjc2tm1EGFPKwiGjb1tm1KwiGjc2tm1EGFPKwi

dysmyelination_Gjb1<tm1Kwi>/Y,Gjc2<tm1(EGFP)Kwi>/Gjc2<tm1(EGFP)Kwi>

表現型アノテーション

MGI marker

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

• gap junction protein, beta 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95719
• gap junction protein, gamma 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2153060

遺伝子型

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

• Gjb1<tm1Kwi>/Y,Gjc2<tm1(EGFP)Kwi>/Gjc2<tm1(EGFP)Kwi>

アレルシンボル

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

• Gjb1<tm1Kwi>|Gjc2<tm1(EGFP)Kwi>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

MP annotation

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

• dysmyelination
  http://purl.obolibrary.org/obo/MP_0013438

文献

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

• Natasa. Schiza, et.al., Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25524707