abnormal neuromuscular synapse morphology_Ighmbp2<nmd-2J>/Ighmbp2<nmd-2J>

http://metadb.riken.jp/0001053B6BKSIghmbp2nmd2JJIghmbp2nmd2JIghmbp2nmd2JIghmbp2nmd2J

abnormal neuromuscular synapse morphology_Ighmbp2<nmd-2J>/Ighmbp2<nmd-2J>

表現型アノテーション

MGI marker

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

• immunoglobulin mu binding protein 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:99954

遺伝子型

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

• Ighmbp2<nmd-2J>/Ighmbp2<nmd-2J>

アレルシンボル

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

• Ighmbp2<nmd-2J>

遺伝的背景

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

• B6.BKS-Ighmbp2<nmd-2J>/J

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

• Katja. Grohmann, et.al., Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)., Human molecular genetics, 2004, 13
  http://rdf.ncbi.nlm.nih.gov/pubmed/15269181