Strain Data Sheet

RBRC04887

Strain Information

Image
BRC No.RBRC04887
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.Cg-Cacna1a<tm1.1(CACNA1A)Ttan>
Former Common nameB6-Cacna1a KI#1.1
H-2 Haplotype
ES Cell lineJ1 [129S4/SvJae]
Background strain
Appearance
Strain developmentDeveloped by Tsutomu Tanabe, Graduate School of Medicine in 2001. The human CACNA1 cDNA with 28 CAG repeat was inserted into mouse Cacna1a exon 1. Hygromycin cassette was remove by crossing with B6;SJL-Tg(ACTFLPe)9205Dym mice.
Strain descriptionThe human CACNA1 cDNA with 28 CAG repeat and FLAG-tag were inserted into mouse Cacna1a exon 1. Homozygous mutant mice show ataxia at around 10 days-old, and die within 3-4 weeks after birth.
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJcl]Cacna1a homozygous mutant mice show ataxia at around 10 days-old, and die within 3-4 weeks after birth.
References
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
Saegusa H, Wakamori M, Matsuda Y, Wang J, Mori Y, Zong S, Tanabe T
Mol. Cell. Neurosci., 34, 261-270 (2007). 17188510

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
CACNA1Acalcium channel, voltage-dependent, P/Q type, alpha 1A subunit8CACNA1Atargeted mutation 1.1, Tsutomu Tanabe
  • developmental and epileptic encephalopathy, 42(MedGEN)

  • episodic ataxia type 2(DisGeNET, MedGEN)

  • migraine, familial hemiplegic, 1(MedGEN)
    • more 1 Diseases
  • spinocerebellar ataxia type 6(DisGeNET, MedGEN)
    • Cacna1acalcium channel, voltage-dependent, P/Q type, alpha 1A subunit8Cacna1atargeted mutation 1.1, Tsutomu Tanabe
  • developmental and epileptic encephalopathy, 42(MedGEN)

  • episodic ataxia type 2(DisGeNET, MedGEN)

  • migraine, familial hemiplegic, 1(MedGEN)
    • more 1 Diseases
  • spinocerebellar ataxia type 6(DisGeNET, MedGEN)
    • IRESinternal ribosomal entry site (EMCV)8
  • developmental and epileptic encephalopathy, 42(MedGEN)

  • episodic ataxia type 2(DisGeNET, MedGEN)

  • migraine, familial hemiplegic, 1(MedGEN)
    • more 1 Diseases
  • spinocerebellar ataxia type 6(DisGeNET, MedGEN)
    • SV40 polyA signal
  • developmental and epileptic encephalopathy, 42(MedGEN)

  • episodic ataxia type 2(DisGeNET, MedGEN)

  • migraine, familial hemiplegic, 1(MedGEN)
    • more 1 Diseases
  • spinocerebellar ataxia type 6(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • ataxia(MP:0001393)

  • dystonia(MP:0005323)

  • lethality at weaning, complete penetrance(MP:0011083)
    • Detailed phenotype data

    Ordering Information

    Donor DNAEMCV IRES, Human CACNA1A gene cDNA, SV40 polyA signal
    Research application
    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. Mol. Cell Neurosci., 34, 261-270 (2007).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. 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. RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results from use of the BIOLOGICAL RESOURCE.
    DepositorTsutomu Tanabe (Tokyo Medical and Dental University)
    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