abnormal neuromuscular synapse morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>

http://metadb.riken.jp/0001053I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni

abnormal neuromuscular synapse morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>

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<tm1Soni>/Hspg2<tm1Soni>

アレルシンボル

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

• Hspg2<tm1Soni>

遺伝的背景

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

• involves: 129S/SvEv * DBA/2J

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

• Marie. Bangratz, et.al., A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking., The American journal of pathology, 2012, 180
  http://rdf.ncbi.nlm.nih.gov/pubmed/22449950