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

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

pubmed

allele

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

• Smn1<tm1.1Dscd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4836979

表現型アノテーション

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

• decreased grip strength_Smn1<tm1Msd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0010053I129SSvEv129P2OlaHsd129S4SvJaeSorC57BL6Smn1tm1MsdSmn1tm11DscdSmn1tm1MsdSmn1tm11Dscd
• decreased vertical activity_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0002757I129SSvEv129S4SvJaeSorC57BL6Smn1tm11DscdSmn1tm11DscdSmn1tm11Dscd
• decreased grip strength_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0010053I129SSvEv129S4SvJaeSorC57BL6Smn1tm11DscdSmn1tm11DscdSmn1tm11Dscd
• increased skeletal muscle fiber size_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0009399I129SSvEv129S4SvJaeSorC57BL6Smn1tm11DscdSmn1tm11DscdSmn1tm11Dscd
• decreased vertical activity_Smn1<tm1Msd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0002757I129SSvEv129P2OlaHsd129S4SvJaeSorC57BL6Smn1tm1MsdSmn1tm11DscdSmn1tm1MsdSmn1tm11Dscd
• hypoactivity_Smn1<tm1.1Dscd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0001402I129SSvEv129S4SvJaeSorC57BL6Smn1tm11DscdSmn1tm11DscdSmn1tm11Dscd
• hypoactivity_Smn1<tm1Msd>/Smn1<tm1.1Dscd>
  http://metadb.riken.jp/0001402I129SSvEv129P2OlaHsd129S4SvJaeSorC57BL6Smn1tm1MsdSmn1tm11DscdSmn1tm1MsdSmn1tm11Dscd

class

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

• Smn1<tm1.1Dscd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4836979

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD02767
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02767