abnormal gastrocnemius morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*A111G)588Ahmb/0

http://metadb.riken.jp/0003082I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2A111G588Ahmb0TgSMN2A111G588AhmbSmn1tm1MsdGrm7TgSMN289Ahmb

abnormal gastrocnemius morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*A111G)588Ahmb/0

表現型アノテーション

MGI marker

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

• glutamate receptor, metabotropic 7
  http://metadb.riken.jp/db/mgi_rdf/MGI:1351344
• transgene insertion 588, Arthur H M Burghes
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847316
• 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<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*A111G)588Ahmb/0

アレルシンボル

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

• Tg(SMN2*A111G)588Ahmb|Smn1<tm1Msd>|Grm7<Tg(SMN2)89Ahmb>

遺伝的背景

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

• involves: 129P2/OlaHsd * FVB/N

MP annotation

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

• abnormal gastrocnemius morphology
  http://purl.obolibrary.org/obo/MP_0003082

文献

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

• Eileen. Workman, et.al., A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice., Human molecular genetics, 2009, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/19329542