esophageal achalasia_Lmna<tm11Lgf>/Lmna<+>

http://metadb.riken.jp/0011570I129P2OlaHsdC57BL6Lmnatm11LgfLmnaLmnaLmnatm11Lgf

esophageal achalasia_Lmna<tm11Lgf>/Lmna<+>

表現型アノテーション

MGI marker

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

• lamin A
  http://metadb.riken.jp/db/mgi_rdf/MGI:96794

遺伝子型

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

• Lmna<tm11Lgf>/Lmna<+>

アレルシンボル

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

• Lmna<+>|Lmna<tm11Lgf>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

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

• esophageal achalasia
  http://purl.obolibrary.org/obo/MP_0011570

文献

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

• Shao H. Yang, et.al., Mice that express farnesylated versions of prelamin A in neurons develop achalasia., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25652409