prenatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Tg(SMN2*A111G)591Ahmb/0

http://metadb.riken.jp/0011091I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0TgSMN2A111G591Ahmb0TgSMN1A2G2023AhmbTgSMN2A111G591AhmbSmn1tm1Msd

prenatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Tg(SMN2*A111G)591Ahmb/0

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
• transgene insertion 591, Arthur H M Burghes
  http://metadb.riken.jp/db/mgi_rdf/MGI:3847319
• transgene insertion 2023, Arthur H M Burghes
  http://metadb.riken.jp/db/mgi_rdf/MGI:3033247

遺伝子型

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

• Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Tg(SMN2*A111G)591Ahmb/0

アレルシンボル

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

• Tg(SMN1*A2G)2023Ahmb|Tg(SMN2*A111G)591Ahmb|Smn1<tm1Msd>

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

• complete prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011091

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