abnormal neuromuscular synapse morphology_Smn1<tm1Hung>/Smn1<tm1Hung>,Tg(SMN2)2Hung/0

http://metadb.riken.jp/0001053B6NCgSmn1tm1HungTgSMN22HungSmn1tm1HungSmn1tm1HungTgSMN22Hung0Smn1tm1HungTgSMN22Hung

abnormal neuromuscular synapse morphology_Smn1<tm1Hung>/Smn1<tm1Hung>,Tg(SMN2)2Hung/0

表現型アノテーション

MGI marker

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

• survival motor neuron 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:109257
• transgene insertion 2, Hung Li
  http://metadb.riken.jp/db/mgi_rdf/MGI:3514027

遺伝子型

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

• Smn1<tm1Hung>/Smn1<tm1Hung>,Tg(SMN2)2Hung/0

アレルシンボル

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

• Smn1<tm1Hung>|Tg(SMN2)2Hung

遺伝的背景

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

• B6N.Cg-Smn1<tm1Hung> Tg(SMN2)2Hung

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

• Bastian. Ackermann, et.al., Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23263861