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

http://metadb.riken.jp/0001053C57BL6JGarsNmf249JGarsNmf249GarsGarsNmf249Gars

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<Nmf249>|Gars<+>

遺伝的背景

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

• C57BL/6J-Gars<Nmf249>/J

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

• Kevin L. Seburn, et.al., An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model., Neuron, 2006, 51
  http://rdf.ncbi.nlm.nih.gov/pubmed/16982418