embryonic lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/?

http://metadb.riken.jp/0011092I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023AhmbTgSMN1A2G2023AhmbSmn1tm1Msd

embryonic lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/?

表現型アノテーション

MGI marker

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

• transgene insertion 2023, Arthur H M Burghes
  http://metadb.riken.jp/db/mgi_rdf/MGI:3033247
• 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>,Tg(SMN1*A2G)2023Ahmb/?

アレルシンボル

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

• Tg(SMN1*A2G)2023Ahmb|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 embryonic lethality
  http://purl.obolibrary.org/obo/MP_0011092

文献

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

• Umrao R. Monani, et.al., A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy., The Journal of cell biology, 2003, 160
  http://rdf.ncbi.nlm.nih.gov/pubmed/12515823