Strain Data Sheet

RBRC05350

Strain Information

Image
BRC No.RBRC05350
TypeTransgeneCartagena
SpeciesMus musculus
Strain nameB6;B6D2-Tg(Thy1-BSCL2*N88S)1
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Daisuke Ito, School of Medicine, Keio University. A human seipin cDNA with the N88S mutation was inserted into the pTSC21k vector, which encodes the 8.1 kb murine Thy1.2 expression cassette. This construct was Not I digested to remove vector sequences, co-injected into the pronucleus of fertilized eggs from Slc:B6D2F1 strain mice. Founders were bred and backcrossed with C57BL6/J mice to establish transgenic lines.
Strain descriptionHeterozygosity for mutations (N88S L) in the seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, seipinopathy/seipin/BSCL2-related motor neuron diseases. A previous in vitro study suggested that ER stress is a key process in the pathogenesis of seipinopathies. Transgenic mouse line expressing the human N88S seipin mutant develop age-dependent motor phenotypes, which recapitulate key clinical features of seipinopathy. Remarkably, this phenotype was associated with ER stress in affected neuronal tissue. Therefore, this Tg mouse provides clues for understanding its relationship with ER stress and neurodegeneration, and could be a valid tool for the development of novel therapeutic strategies against ER stress-related diseases. N88S seipin Tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and neurogenic muscular atrophy, recapitulating the symptomatic and pathological phenotype in patients of seipinopathy by the age of 28 weeks.
Colony maintenanceCarrier X Noncarrier [C57BL/6JJcl]
References
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.
Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N
Hum. Mol. Genet., 20, 3831-3840 (2011). 21750110

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
BSCL2Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)UNBSCL2

Phenotype

Annotation by Mammalian phenotyhpe ontology
  • abnormal axonal transport(MP:0004768)

  • abnormal gait(MP:0001406)

  • abnormal motor capabilities/coordination/movement(MP:0002066)

  • abnormal nervous system morphology(MP:0003632)

  • astrocytosis(MP:0003354)
    • more 12 phenotypes
  • axon degeneration(MP:0005405)

  • decreased body weight(MP:0001262)

  • decreased grip strength(MP:0010053)

  • decreased survivor rate(MP:0008770)

  • gliosis(MP:0002183)

  • impaired coordination(MP:0001405)

  • increased endoplasmic reticulum stress(MP:0020354)

  • limb grasping(MP:0001513)

  • muscular atrophy(MP:0002269)

  • paralysis(MP:0000753)

  • premature death(MP:0002083)

  • short stride length(MP:0001407)
    • Detailed phenotype data

    Ordering Information

    Donor DNAmouse Thy-1 promoter, mouse Thy-1 geneomic DNA, human N88S seipin gene cDNA, 6X Myc tag, V5-His Tag
    Research application
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form.
    DepositorDaisuke Ito (Keio University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-
    Mouse of the Month Dec 2011

    BRC mice in Publications

    No Data