Strain Data Sheet
RBRC05350
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| Image | |
| BRC No. | RBRC05350 |
| Type | Transgene |
| Species | Mus musculus |
| Strain name | B6;B6D2-Tg(Thy1-BSCL2*N88S)1 |
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| H-2 Haplotype | |
| ES Cell line | |
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| Strain development | Developed 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 description | Heterozygosity 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 maintenance | Carrier X Noncarrier [C57BL/6JJcl] |
| References | Hum. Mol. Genet., 20, 3831-3840 (2011). 21750110 |
Health Report | |
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Gene | |
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| Gene info | Gene symbolGene nameChr.Allele symbolAllele nameCommon namesPromoter BSCL2Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)UNBSCL2 |
Information2 | |
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| Donor DNA | mouse Thy-1 promoter, mouse Thy-1 geneomic DNA, human N88S seipin gene cDNA, 6X Myc tag, V5-His Tag |
| Research application | |
| Specific Term and Conditions | Prior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. |
| Depositor | Daisuke Ito (Keio University) |
| Strain Status |  Frozen embryos Frozen sperm |
| Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved sperm (within 1 month) Cryopreserved embryos (within 1 month) |
| Additional Info. | Mouse of the Month Dec 2011 Necessary documents for ordering:
Genotyping protocol -PCR- |
BRC mice in Publications |
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