abnormal neuromuscular synapse morphology_Gars<Nmf249>/Gars<+>

http://metadb.riken.jp/0001053IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249

abnormal neuromuscular synapse morphology_Gars<Nmf249>/Gars<+>

表現型アノテーション

MGI marker

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

• glycyl-tRNA synthetase
  http://metadb.riken.jp/db/mgi_rdf/MGI:2449057

遺伝子型

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

• Gars<Nmf249>/Gars<+>

アレルシンボル

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

• Gars<+>|Gars<Nmf249>

遺伝的背景

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

• involves: C57BL/6J * CAST/Ei

MP annotation

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

• abnormal neuromuscular synapse morphology
  http://purl.obolibrary.org/obo/MP_0001053

文献

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

• William W. Motley, et.al., Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels., PLoS genetics, 2011, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/22144914