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

Eileen. Workman, et.al., A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice., Human molecular genetics, 2009, 18

pubmed

allele

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

• Tg(SMN2*)1951Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847329
• Tg(SMN2*A111G)591Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847326
• Tg(SMN2*A111G)588Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847324

表現型アノテーション

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

• abnormal skeletal muscle morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*A111G)588Ahmb/0
  http://metadb.riken.jp/0000759I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2A111G588Ahmb0TgSMN2A111G588AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• prenatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Tg(SMN2*A111G)588Ahmb/0
  http://metadb.riken.jp/0011091I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0TgSMN2A111G588Ahmb0TgSMN1A2G2023AhmbTgSMN2A111G588AhmbSmn1tm1Msd
• postnatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*)1951Ahmb/0
  http://metadb.riken.jp/0011085I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN21951Ahmb0Grm7TgSMN289AhmbTgSMN21951AhmbSmn1tm1Msd
• prenatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN2*A111G)591Ahmb/0
  http://metadb.riken.jp/0011091I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN2A111G591Ahmb0Smn1tm1MsdTgSMN2A111G591Ahmb
• prenatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Tg(SMN2*A111G)591Ahmb/0
  http://metadb.riken.jp/0011091I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0TgSMN2A111G591Ahmb0TgSMN1A2G2023AhmbTgSMN2A111G591AhmbSmn1tm1Msd
• 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

class

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

• Tg(SMN2*)1951Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847329
• Tg(SMN2*A111G)591Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847326
• Tg(SMN2*A111G)588Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847324