cataract_Tbc1d20<bs>/Tbc1d20<bs>

http://metadb.riken.jp/0001304129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs

cataract_Tbc1d20<bs>/Tbc1d20<bs>

表現型アノテーション

MGI marker

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

• TBC1 domain family, member 20
  http://metadb.riken.jp/db/mgi_rdf/MGI:1914481

遺伝子型

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

• Tbc1d20<bs>/Tbc1d20<bs>

アレルシンボル

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

• Tbc1d20<bs>

遺伝的背景

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

• 129S;AKR-Tbc1d20<bs>/J

MP annotation

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

• cataracts
  http://purl.obolibrary.org/obo/MP_0001304

文献

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

• Ryan P. Liegel, et.al., Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., American journal of human genetics, 2013, 93
  http://rdf.ncbi.nlm.nih.gov/pubmed/24239381