abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<+>,Scn8a<m10J>/Scn8a<+>

http://metadb.riken.jp/0001053IBALBcAnNC3HHeJFVBNJGarsC201RGarsScn8am10JScn8aGarsC201RScn8aGarsScn8am10J

abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<+>,Scn8a<m10J>/Scn8a<+>

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
• sodium channel, voltage-gated, type VIII, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:103169

遺伝子型

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

• Gars<C201R>/Gars<+>,Scn8a<m10J>/Scn8a<+>

アレルシンボル

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

• Gars<C201R>|Scn8a<+>|Gars<+>|Scn8a<m10J>

遺伝的背景

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

• involves: BALB/cAnN * C3H/HeJ * FVB/NJ

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

• Kathryn H. Morelli, et.al., Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes., Cell reports, 2017, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/28355569