Melissa S. Cobb, et.al., Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy., Human molecular genetics, 2013, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/23390132

Melissa S. Cobb, et.al., Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy., Human molecular genetics, 2013, 22

pubmed

allele

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

• Tg(SMN1-SMN2*)16Cll
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490785

表現型アノテーション

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

• premature death_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• postnatal lethality_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0002082FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299Ahmb0Smn1tm1MsdTgSMN2delta74299AhmbGrm7TgSMN289Ahmb
• postnatal lethality_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002082FVBCgGrm7TgSMN289AhmbSmn1tm1MsdJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1Msd
• decreased grip strength_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0010053I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• epidermal necrosis_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001220I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• decreased skeletal muscle fiber size_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0009400FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299Ahmb0Smn1tm1MsdTgSMN2delta74299AhmbGrm7TgSMN289Ahmb
• impaired righting response_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001523I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• decreased skeletal muscle fiber size_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0009400I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• impaired coordination_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001405I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• decreased body weight_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001262FVBCgGrm7TgSMN289AhmbSmn1tm1MsdJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1Msd
• cardiac interstitial fibrosis_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0005608FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299Ahmb0Smn1tm1MsdTgSMN2delta74299AhmbGrm7TgSMN289Ahmb
• cardiac interstitial fibrosis_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0005608I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• abnormal neuromuscular synapse morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001053I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• decreased body weight_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0001262FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299Ahmb0Smn1tm1MsdTgSMN2delta74299AhmbGrm7TgSMN289Ahmb
• decreased body size_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001265I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb
• thin interventricular septum_Smn1<tm1Msd>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>,Tg(SMN2*delta7)4299Ahmb/0
  http://metadb.riken.jp/0010725FVBCgGrm7TgSMN289AhmbSmn1tm1MsdTgSMN2delta74299AhmbJSmn1tm1MsdSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbTgSMN2delta74299Ahmb0Smn1tm1MsdTgSMN2delta74299AhmbGrm7TgSMN289Ahmb
• thin interventricular septum_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1-SMN2*)16Cll/0,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0010725I129P2OlaHsdC57BL6FVBNSmn1tm1MsdSmn1tm1MsdTgSMN1SMN216Cll0Grm7TgSMN289AhmbGrm7TgSMN289AhmbSmn1tm1MsdTgSMN1SMN216CllGrm7TgSMN289Ahmb

class

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

• Tg(SMN1-SMN2*)16Cll
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490785