dysphagia_Uchl1<gad>/Uchl1<gad>,Uchl3<tm1Tilg>/Uchl3<tm1Tilg>

http://metadb.riken.jp/0003158I129S1SvC57BL6JCBANgaRFMNgaUchl1gadUchl1gadUchl3tm1TilgUchl3tm1TilgUchl3tm1TilgUchl1gad

dysphagia_Uchl1<gad>/Uchl1<gad>,Uchl3<tm1Tilg>/Uchl3<tm1Tilg>

表現型アノテーション

MGI marker

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

• ubiquitin carboxy-terminal hydrolase L1
  http://metadb.riken.jp/db/mgi_rdf/MGI:103149
• ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1355274

遺伝子型

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

• Uchl1<gad>/Uchl1<gad>,Uchl3<tm1Tilg>/Uchl3<tm1Tilg>

アレルシンボル

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

• Uchl3<tm1Tilg>|Uchl1<gad>

遺伝的背景

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

• involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

MP annotation

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

• dysphagia
  http://purl.obolibrary.org/obo/MP_0003158

文献

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

• L J. Kurihara, et.al., Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia., Human molecular genetics, 2001, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/11555633