Strain Data Sheet

RBRC05604

Strain Information

Image
BRC No.RBRC05604
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameC57BL/6N-Stxbp1<tm1Ksak>
Former Common nameMunc18-1 floxed, B6-Stxbp1 floxed
H-2 Haplotype
ES Cell lineRENKA [C57BL/6NCrlCrlj]
Background strainC57BL/6NCrlCrlj
Appearance
Strain developmentDeveloped by Kenji Sakimura, Brain Research Institute, Niigata University in 2008. C57BL/6N background.
Strain descriptionMunc18-1 (Stxbp1) gene conditional knockout mice. Exon 3 of Stxbp1 was flanked by loxP sites. Conditional Munc18-1 deficient mice can be generated by crossing with tissue-specific Cre mice. Homozygous null knockout mice die within 24 hrs after birth.
Colony maintenanceHeterozygote x Wild-type [C57BL/6NCrlCrlj]
References
Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.
Miyamoto H, Shimohata A, Abe M, Abe T, Mazaki E, Amano K, Suzuki T, Tatsukawa T, Itohara S, Sakimura K, Yamakawa K
Hum. Mol. Genet., 26(24):4961-4974 (2017). 29040524

Flp recombinase transgenic mice of C57BL/6 strain for conditional gene targeting.
Takeuchi T, Nomura T, Tsujita M, Suzuki M, Fuse T, Mori H, Mishina M
Biochem. Biophys. Res. Commun., 293, 953-957 (2002). 12051751

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Frtyeast FRT (flippase recombination target) site2Frt
  • developmental and epileptic encephalopathy, 4(MedGEN)
    • Stxbp1syntaxin binding protein 12Stxbp1targeted mutation 1, Kenji Sakimura
  • developmental and epileptic encephalopathy, 4(MedGEN)
    • loxPphage P1 loxP2loxP
  • developmental and epileptic encephalopathy, 4(MedGEN)
    • loxPphage P1 loxP2loxP
  • developmental and epileptic encephalopathy, 4(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal spike wave discharge(MP:0008840)

  • absence seizures(MP:0003216)

  • convulsive seizures(MP:0000947)

  • decreased body weight(MP:0001262)

  • hyperactivity(MP:0001399)
    • more 4 phenotypes
  • increased aggression towards male mice(MP:0001354)

  • increased aggression towards mice(MP:0001353)

  • increased anxiety-related response(MP:0001363)

  • increased fear-related response(MP:0003459)
    • Detailed phenotype data

    Ordering Information

    Donor DNAYeast FRT (flippase recombination target) site, P1 Phage LoxP sites, mouse Stxbp1 genomic DNA
    Research applicationCre/loxP system
    Specific Term and ConditionsIn publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgement to the DEPOSITOR is requested. The availability of the BIOLOGICAL RESOURCE is limited to a RECIPIENT of a not-for-profit institution for a not-for-profit research. The RECIPIENT agrees to use the BIOLOGICAL RESOURCE only for scientific research for publishing paper(s). The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results obtained by using the BIOLOGICAL RESOURCE. For the use of BIOLOGICAL RESOURCE by a for-profit institutions, the RECIPIENT must reach agreement on terms and conditions of use of it with DEPOSITOR and must obtain a prior written consent from the DEPOSITOR.
    DepositorKenji Sakimura (Niigata 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. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)
    Lab HP (Japanese)
    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data