abnormal skeletal muscle fiber morphology_Trim32<tm1Spc>/Trim32<tm1Spc>

http://metadb.riken.jp/0003084I129SSvEvBrdBALBcJC57BL6JTrim32tm1SpcTrim32tm1SpcTrim32tm1Spc

abnormal skeletal muscle fiber morphology_Trim32<tm1Spc>/Trim32<tm1Spc>

表現型アノテーション

MGI marker

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

• tripartite motif-containing 32
  http://metadb.riken.jp/db/mgi_rdf/MGI:1917057

遺伝子型

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

• Trim32<tm1Spc>/Trim32<tm1Spc>

アレルシンボル

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

• Trim32<tm1Spc>

遺伝的背景

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

• involves: 129S/SvEvBrd * BALB/cJ * C57BL/6J

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal skeletal muscle fiber morphology
  http://purl.obolibrary.org/obo/MP_0003084

文献

http://purl.org/net/cito/citesAsAuthority

• Elena. Kudryashova, et.al., The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21775502