abnormal neuromuscular synapse morphology_Hspg2<tm1.1Soni>/Hspg2<tm1.1Soni>

http://metadb.riken.jp/0001053I129SSvEvC57BL6Hspg2tm11SoniHspg2tm11SoniHspg2tm11Soni

abnormal neuromuscular synapse morphology_Hspg2<tm1.1Soni>/Hspg2<tm1.1Soni>

表現型アノテーション

MGI marker

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

• perlecan (heparan sulfate proteoglycan 2)
  http://metadb.riken.jp/db/mgi_rdf/MGI:96257

遺伝子型

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

• Hspg2<tm1.1Soni>/Hspg2<tm1.1Soni>

アレルシンボル

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

• Hspg2<tm1.1Soni>

遺伝的背景

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

• involves: 129S/SvEv * C57BL/6

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

• Morgane. Stum, et.al., Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia., Human molecular genetics, 2008, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/18647752