Strain Data Sheet

RBRC03663

Strain Information

Image
BRC No.RBRC03663
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129S-Arx<tm2(P355R)Kki>/1KkiRbrc
Former Common nameArx P355R KI (B6)
H-2 Haplotype
ES Cell lineCCE/EK.CCE [129S/SvEv-Gpi1<c>]
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Dr. Kunio Kitamura, Mistubishi Kagaku Insitute of Life Sciences.
Strain descriptionArx P355R variant knock-in mice
Colony maintenanceHeterozygote x Wild-type [C57BL/6J]
References
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y
Hum. Mol. Genet., 18, 3708-3724 (2009). 19605412

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Arxaristaless related homeoboxXArxtargeted mutation 2, Kunio Kitamura
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)

  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)
    • more 2 Diseases
  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal neuronal migration(MP:0006009)

  • abnormal postnatal subventricular zone morphology(MP:0004275)

  • abnormal ventral striatum morphology(MP:0004103)

  • decreased brain size(MP:0000774)

  • neonatal lethality, complete penetrance(MP:0011087)
    • more 2 phenotypes
  • small olfactory bulb(MP:0002741)

  • thin cortical plate(MP:0008441)
    • Detailed phenotype data

    Ordering Information

    Donor DNAmouse ARX genomic DNA, E. coli Neomycin resistance gene, HSV MC1 promoter (HSV-tk), SV40 PolyA signal
    Research application
    Specific Term and ConditionsThe BIOLOGICAL RESOURCE shall be used only for academic research purposes by a non-profit organization.
    The RECIPIENT of a non-profit organization must prior contact RIKEN BRC and negotiate with Mitsubishi Chemical Corporation to use the BIOLOGICAL RESOURCE for purposes of other than academic research.
    In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE in relevant journals and meetings, the RECIPIENT must stipulate the source of the BIOLOGICAL RESOURCE and an acknowledgment to Mitsubishi Chemical Corporation.
    The RECIPIENT agrees that RIKEN BRC informs annually to Mitsubishi Chemical Corporation of RECIPIENT organization, RECIPIENT name, the specific research purpose and the date of distribution.
    DepositorKunio Kitamura (Mitsubishi Kasei Institute of Life Sciences)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved embryos (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)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data