demyelination_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>

http://metadb.riken.jp/0000921I129P2OlaHsdC57BL6JCEJGalctwiGalctwiGlb1tm1AdzGlb1GalctwiGlb1Glb1tm1Adz

demyelination_Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>

表現型アノテーション

MGI marker

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

• galactosidase, beta 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88151
• galactosylceramidase
  http://metadb.riken.jp/db/mgi_rdf/MGI:95636

遺伝子型

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

• Galc<twi>/Galc<twi>,Glb1<tm1Adz>/Glb1<+>

アレルシンボル

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

• Galc<twi>|Glb1<+>|Glb1<tm1Adz>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6J * CE/J

MP annotation

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

• demyelination
  http://purl.obolibrary.org/obo/MP_0000921

文献

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

• J. Tohyama, et.al., Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)., Human molecular genetics, 2000, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/10861297