Thanh T. Le, et.al., SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN., Human molecular genetics, 2005, 14

http://rdf.ncbi.nlm.nih.gov/pubmed/15703193

Thanh T. Le, et.al., SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN., Human molecular genetics, 2005, 14

pubmed

allele

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

• Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3056918

表現型アノテーション

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

• postnatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/0,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0011085FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289Ahmb0TgSMN2delta74299Ahmb0Grm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299Ahmb
• abnormal neuromuscular synapse morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001053FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• decreased body weight_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001262FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• postnatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0011085B6CgGrm7TgSMN289AhmbSmn1tm1MsdSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• postnatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0011085FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• skeletal muscle fiber atrophy_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0009413FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• impaired limb coordination_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001524FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• impaired balance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001525FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• impaired righting response_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001523FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• decreased motor neuron number_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0000939FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• abnormal gait_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/0001406FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbTgSMN2delta74299AhmbSmn1tm1MsdGrm7TgSMN289Ahmb
• postnatal lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0011085B6CgGrm7TgSMN289AhmbSmn1tm1MsdSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289Ahmb0Grm7TgSMN289AhmbSmn1tm1Msd
• decreased body weight_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001262B6CgGrm7TgSMN289AhmbSmn1tm1MsdSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdGrm7TgSMN289Ahmb

class

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

• Tg(SMN2*delta7)4299Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:3056918