Strain Data Sheet

RBRC10243

Strain Information

Image
BRC No.RBRC10243
TypeTargeted Mutation CongenicCartagena
SpeciesMus musculus
Strain nameB6.129-Scn2a<tm1Mml>
Former Common name
H-2 Haplotype
ES Cell lineR1 [(129X1/SvJ x 129S1/Sv)F1-Kitl<+>]
Background strain
Appearance
Strain developmentDeveloped by Prof. Maurice Montal, Section of Neurobiology, Division of Biological Sciences, University of California San Diego, USA. Deposited by Kazuhiro Yamakawa, RIKEN BSI in 2018. R1 ES cells[(129X1/SvJ x 129S1/Sv)F1] were used. C57BL/6J congenic line.
Strain descriptionScn2a (sodium channel, voltage-gated, type II, alpha)knockout mice. Homozygous mutants are lethal at postnatal day 1 or 2. Heterozygotes are fertile.
Colony maintenance
References
Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice.
Planells-Cases R, Caprini M, Zhang J, Rockenstein E M, Rivera R R, Murre C, Masliah E, Montal M
Biophys. J., 78(6), 2878-2891 (2000). 10827969

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Scn2a
MGI:98248		sodium channel, voltage-gated, type II, alpha2Scn2a<tm1Mml>
MGI:2180186		targeted mutation 1, Mauricio Montal
  • developmental and epileptic encephalopathy, 11(MedGEN)

  • episodic ataxia, type 9(MedGEN)

  • seizures, benign familial infantile, 3(MedGEN)
    • neo neomycin resistance gene (E. coli)2 herpes simplex virus thymidine kinase promoter (HSV tk promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal brainstem morphology(MP:0005277)

  • abnormal hemoglobin(MP:0001588)

  • abnormal nervous system electrophysiology(MP:0002272)

  • abnormal spike wave discharge(MP:0008840)

  • absent gastric milk in neonates(MP:0009546)
    • more 8 phenotypes
  • behavioral arrest(MP:0008035)

  • cyanosis(MP:0001575)

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

  • hypoxia(MP:0005039)

  • nonconvulsive seizures(MP:0000948)

  • postnatal lethality, complete penetrance(MP:0011085)

  • respiratory distress(MP:0001954)

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

    Ordering Information

    Donor DNAherpes simplex virus thymidine kinase promoter (HSV tk promoter), E.coli neo, mouse Scn2a genomic DNA
    Research application
    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. Biophys. J., 78(6), 2878-2891 (2000). 1) Prior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEVELOPER (Prof. Maurice Montal, Section of Neurobiology, Division of Biological Sciences, University of California San Diego, USA, E-mail: mmontal@ucsd.edu) using the Approval Form.
    2) 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 DEVELOPER (Prof. Maurice Montal) 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 Live miceLive mice
    an icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityCryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Live mouse (3 to 6 months)
    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