Strain Data Sheet

RBRC10469

Strain Information

Image
BRC No.RBRC10469
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129-Scn2a<tm1.1Kzy>
Former Common nameScn2a-knock-in, Scn2aRX/+
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strain
Appearance
Strain developmentDeveloped by Ikuo Ogiwara and Kazuhiro Yamakawa, RIKEN BSI in 2007. E14 ES cells(129P2/OlaHsd) were used and the Neo gene was deleted by CAG-Flpe mice. C57BL/6J congenic line (17 generations).
Strain descriptionA strain harboring a point mutation (R102*) at the Scn2a (sodium channel, voltage-gated, type II, alpha) gene. Homozygous mutants are lethal neonatally.
Colony maintenance
References
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Ogiwara I, Miyamoto H, Tatsukawa T, Yamagata T, Nakayama T, Atapour N, Miura E, Mazaki E, Ernst S J, Cao D, Ohtani H, Itohara S, Yanagawa Y, Montal M, Yuzaki M, Inoue Y, Hensch T K, Noebels J L, Yamakawa K
Commun. Biol., 1, Article number: 96 (2018). 30175250

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, 11(MedGEN)

  • episodic ataxia, type 9(MedGEN)

  • seizures, benign familial infantile, 3(MedGEN)
    • Scn2asodium channel, voltage-gated, type II, alpha2Scn2atargeted mutation 1.1, Kazuhiro Yamakawa
  • developmental and epileptic encephalopathy, 11(MedGEN)

  • episodic ataxia, type 9(MedGEN)

  • seizures, benign familial infantile, 3(MedGEN)
    • loxPphage P1 loxP2loxP
  • developmental and epileptic encephalopathy, 11(MedGEN)

  • episodic ataxia, type 9(MedGEN)

  • seizures, benign familial infantile, 3(MedGEN)

    • Phenotype

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

  • behavioral arrest(MP:0008035)

  • decreased susceptibility to pharmacologically induced seizures(MP:0002887)

  • nonconvulsive seizures(MP:0000948)

  • postnatal lethality, complete penetrance(MP:0011085)
    • Detailed phenotype data

    Ordering Information

    Donor DNAPhage P1 loxP site, S.cerevisiae Frt site, mouse Scn2a genomic DNA
    Research applicationCre/loxP system
    FLP/frt system
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Commun. Biol., 1, Article number: 96 (2018). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment 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 must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results from the use of the BIOLOGICAL RESOURCE.
    DepositorKazuhiro Yamakawa (RIKEN CBS)
    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. 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-

    BRC mice in Publications

    No Data