abnormal neuromuscular synapse morphology_Dmd<mdx>/Dmd<mdx>,Utrn<tm1Jrs>/Utrn<tm1Jrs>

http://metadb.riken.jp/0001053I129S1Sv129X1SvJC57BL10ScSnDmdmdxDmdmdxUtrntm1JrsUtrntm1JrsDmdmdxUtrntm1Jrs

abnormal neuromuscular synapse morphology_Dmd<mdx>/Dmd<mdx>,Utrn<tm1Jrs>/Utrn<tm1Jrs>

表現型アノテーション

MGI marker

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

• utrophin
  http://metadb.riken.jp/db/mgi_rdf/MGI:104631
• dystrophin, muscular dystrophy
  http://metadb.riken.jp/db/mgi_rdf/MGI:94909

遺伝子型

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

• Dmd<mdx>/Dmd<mdx>,Utrn<tm1Jrs>/Utrn<tm1Jrs>

アレルシンボル

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

• Dmd<mdx>|Utrn<tm1Jrs>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn

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

• R M. Grady, et.al., Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin--glycoprotein complex., Neuron, 2000, 25
  http://rdf.ncbi.nlm.nih.gov/pubmed/10719885
• R M. Grady, et.al., Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy., Cell, 1997, 90
  http://rdf.ncbi.nlm.nih.gov/pubmed/9288752