perinatal lethality, incomplete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/?

http://metadb.riken.jp/0011090I129P2OlaHsdC57BL6JFVBSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1Msd

perinatal lethality, incomplete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/?

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
• 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>/?

アレルシンボル

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

• Grm7<Tg(SMN2)89Ahmb>|Smn1<tm1Msd>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6J * FVB

MP annotation

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

• partial perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011090

文献

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

• U R. Monani, et.al., The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy., Human molecular genetics, 2000, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/10655541