Strain Data Sheet

RBRC09420

Strain Information

Image
BRC No.RBRC09420
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameSTOCK Scn1a<tm1.1Kzy>
Former Common name
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strain
Appearance
Strain developmentDeveloped by Ikuo Ogiwara and Kazuhiro Yamakawa, RIKEN Brain Science Institute in 2007. E14 ES cells were used to generate the mutant mice. After backcrossing to C57BL/6J (JAX) for 5 times, a frt flanked sequence were removed by crossing with CAG-FLPe mice (B6 background), and then the mice were backcrossed to C57BL/6J(JAX) over 9 times. Then, mice were further backcrossed to B6D2.
Strain descriptionScn1a GENE R1407* nonsense mutation knock-in mice. Homozygous mutant mice show ataxia from around 10 days after birth and die up before 25 days-old due to malnutrition. Heterozygous mutant mice show epileptic seizure from around 14 days after birth, and about 30-50% mice die a sudden death at 20 to 40 days-old. Model mice for Dravet syndrome. C57BL/6 genetic background (RBRC06358), B6D2 mixed genetic background (RBRC09420).
Colony maintenance
References
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch T K, Yamakawa K
J. Neurosci., 27, 5903-5914 (2007). 17537961

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Frt yeast FRT (flippase recombination target) site2Frt
Scn1a
MGI:98246		sodium channel, voltage-gated, type I, alpha2Scn1a<tm1.1Kzy>
MGI:5521534		targeted mutation 1.1. Kazuhiro Yamakawa
  • 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)
    • loxP phage P1 loxP2loxP

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal RR interval(MP:0010504)

  • abnormal cardiovascular system physiology(MP:0001544)

  • abnormal heart electrocardiography waveform feature(MP:0010508)

  • abnormal myocardial fiber physiology(MP:0004215)

  • apnea(MP:0001957)
    • more 12 phenotypes
  • bundle branch block(MP:0010636)

  • convulsive seizures(MP:0000947)

  • decreased heart rate(MP:0005333)

  • environmentally induced seizures(MP:0009358)

  • increased susceptibility to induced morbidity/mortality(MP:0009763)

  • increased susceptibility to pharmacologically induced seizures(MP:0002906)

  • irregular heartbeat(MP:0001636)

  • premature death(MP:0002083)

  • prolonged QT interval(MP:0003233)

  • seizures(MP:0002064)

  • ventricular fibrillation(MP:0006110)

  • ventricular premature beat(MP:0009732)
    • Detailed phenotype data

    Ordering Information

    Donor DNAyeast FRT (flipase recombination target) site, bacteriophage P1 loxP site, mouse Scn1a mutant (R1407*) gene
    Research applicationCre/loxP system
    FLP/frt system
    Neurobiology Research
    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. J. Neurosci., 27, 5903-5914 (2007). 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)
    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. 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