Strain Data Sheet

RBRC06422

Strain Information

Image
BRC No.RBRC06422
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameBALB/c-Scn1a<+/->
Former Common nameC.Dravet, BALB-Scn1a
H-2 Haplotype
ES Cell line
Background strainBALB/cCrSlc
Appearance
Strain developmentDeveloped by Yoshibumi Matsushima, Saitama Cancer Center, Research Institute for Clinical Oncology.
Strain descriptionScn1a spontaneous mutant (Dravet syndrome) mice arose in BALB/c. Heterozygous mice show heat-induced epileptic seizure. Homozygous mutant mice show severe myoclonic epilepsy in infancy, and die at around 3 weeks old. Under investigation. BALB/cCrSlc background (semicongenic) (RBRC06422).
Colony maintenanceHeterozygote x Heterozygote [or Crossing to BALB/cCrSlc]
References

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Scn1a
MGI:98246		sodium channel, voltage-gated, type I, alpha2Scn1a
  • developmental and epileptic encephalopathy 6B(MedGEN)

  • Dravet syndrome(DisGeNET, MedGEN)

  • generalized epilepsy with febrile seizures plus, type 2(MedGEN)
    • more 1 Diseases
  • migraine, familial hemiplegic, 3(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • clonic seizures(MP:0003996)

  • decreased body weight(MP:0001262)

  • decreased bone mineral density(MP:0000063)

  • environmentally induced seizures(MP:0009358)

  • maximal tonic hindlimb extension seizures(MP:0002194)
    • more 5 phenotypes
  • nervous system phenotype(MP:0003631)

  • postnatal lethality, complete penetrance(MP:0011085)

  • seizures(MP:0002064)

  • tonic seizures(MP:0002826)

  • weight loss(MP:0001263)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Neurobiology Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. (will be announced.) For use of the BIOLOGICAL RESOURCE by a for-profit institution, 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.
    DepositorYoshibumi Matsushima (Saitama Cancer Center)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Cryopreserved sperm (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)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data