Strain Information | |
---|---|
Image | |
BRC No. | RBRC05350 |
Type | Transgene |
Species | Mus musculus |
Strain name | B6;B6D2-Tg(Thy1-BSCL2*N88S)1 |
Former Common name | |
H-2 Haplotype | |
ES Cell line | |
Background strain | |
Appearance | |
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 | |
---|---|
Examination Date / Room / Rack |
Gene | |
---|---|
Gene info | Gene symbolGene nameChr.Allele symbolAllele nameCommon namesPromoter BSCL2Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)UNBSCL2 |
Ordering Information | |
---|---|
供与核酸 | mouse Thy-1 promoter, mouse Thy-1 geneomic DNA, human N88S seipin gene cDNA, 6X Myc tag, V5-His Tag |
Research application | |
提供条件 | 条件を付加する。利用者は提供承諾書を用いて、事前に寄託者の承諾を得る。 |
Depositor | 伊東 大介(慶應義塾大学) |
Strain Status | 凍結胚 凍結精子 |
Strain Availability | 凍結胚より作出したマウスを2~4ヶ月以内に提供可能 凍結精子を1ヶ月以内に提供可能 凍結胚を1ヶ月以内に提供可能 |
Additional Info. | Necessary documents for ordering:
Genotyping protocol -PCR- Mouse of the Month Dec 2011 |
BRC mice in Publications |
---|
No Data |