Strain Data Sheet

RBRC03654

Strain Information

Image
BRC No.RBRC03654
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129-Arx<tm(GCG)Kki>/7-1Rbrc
Former Common nameArx (GCG)7-1 KI (B6)
H-2 Haplotype
ES Cell lineCCE/EK.CCE [129S/SvEv-Gpi1<c>]
Background strain
Appearance
Strain developmentDeveloped by Kunio Kitamura, Mitsubishi Kagaku Institute of Life Sciences. CCE/EK.CCE ES cells were used to generate the mutant mice.
Strain descriptionArx GCG 7 repeats knock-in mice. 7 repeats of the GCG triple were inserted at the codon 330 of Arx gene. C57BL/6 mixed background (RBRC03654 and RBRC03656), 129 background (RBRC03655), C3H mixed background (RBRC03657), ICR mixed background (RBRC03665).
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJcl]
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
Arx
MGI:1097716
aristaless related homeoboxXArx<tm4Kki>
MGI:4359177
targeted mutation 4, 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)
  • neo neomycin resistance gene (E. coli)X herpes simplex virus thymidine kinase promoter (HSV tk promoter)
    SV40 polyA signalX

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal cholinergic neuron morphology(MP:0001038)

  • abnormal motor capabilities/coordination/movement(MP:0002066)

  • abnormal neuronal migration(MP:0006009)

  • abnormal response to social novelty(MP:0020395)

  • abnormal social investigation(MP:0001360)
  • more 19 phenotypes
  • abnormal spatial learning(MP:0001463)

  • abnormal spike wave discharge(MP:0008840)

  • decreased body weight(MP:0001262)

  • decreased exploration in new environment(MP:0001417)

  • decreased fear-related response(MP:0003460)

  • decreased locomotor activity(MP:0001402)

  • hyperactivity(MP:0001399)

  • impaired coordination(MP:0001405)

  • impaired passive avoidance behavior(MP:0004000)

  • impaired spatial learning(MP:0012307)

  • increased anxiety-related response(MP:0001363)

  • increased exploration in new environment(MP:0001415)

  • loss of GABAergic neurons(MP:0003246)

  • myoclonus(MP:0000243)

  • postnatal lethality, incomplete penetrance(MP:0011086)

  • premature death(MP:0002083)

  • seizures(MP:0002064)

  • social withdrawal(MP:0001361)

  • tonic seizures(MP:0002826)
  • Detailed phenotype data

    Ordering Information

    Donor DNAherpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli Neomycin resistance gene, SV40 polyA signal, mouse ARX genomic DNA
    Research applicationMouse Models for Human Disease
    Neurobiology Research
    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

    Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG.
    Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
    Hum Mol Genet 31(11) 1884-1908(2022) 35094084
    Loring KE, Mattiske T, Lee K, Zysk A, Jackson MR, Noebels JL, Shoubridge C.
    Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).
    Neurobiol Dis 153 105329(2021) 33711494
    Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C.
    Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.
    Hum Mol Genet 23(4) 1084-94(2014) 24122442
    Beguin S, Crépel V, Aniksztejn L, Becq H, Pelosi B, Pallesi-Pocachard E, Bouamrane L, Pasqualetti M, Kitamura K, Cardoso C, Represa A.
    An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
    Cereb Cortex 23(6) 1484-94(2013) 22628459
    Xu S, Hayashi Y, Takagishi Y, Itoh M, Murata Y.
    Aristaless-related homeobox plays a key role in hyperplasia of the pancreas islet α-like cells in mice deficient in proglucagon-derived peptides.
    PLoS One 8(5) e64415(2013) 23671715