increased skeletal muscle fiber size_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>

http://metadb.riken.jp/0009399I129SSvEv129S4SvJaeSorC57BL6Smn1tm11DscdSmn1tm11DscdSmn1tm11Dscd

increased skeletal muscle fiber size_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>

表現型アノテーション

MGI marker

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

• survival motor neuron 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:109257

遺伝子型

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

• Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>

アレルシンボル

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

• Smn1<tm1.1Dscd>

遺伝的背景

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

• involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

MP annotation

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

• increased skeletal muscle fiber size
  http://purl.obolibrary.org/obo/MP_0009399

文献

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

• Jordan T. Gladman, et.al., A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype., Human molecular genetics, 2010, 19
  http://rdf.ncbi.nlm.nih.gov/pubmed/20705738