Strain Data Sheet

RBRC03666

Strain Information

Image
BRC No.RBRC03666
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameSTOCK Arx<tm1Kki> Gad1<tm1.1Tama>/Rbrc
Former Common nameArx-6 KO/GAD67 GFPdNeo KI
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Kunio Kitamura, Mitsubishi Kagaku Institute of Life Sciences.
Strain descriptionArx gene knockout and GAD67-GFP (Gad1-GFPdNeo) double mutant mice. Arx: A lacZ-neo cassette was inserted into the exon 2 of Arx gene. Hemizygous (-/Y) mutant males die within 12 hrs after birth. GAD67: An EGFP was inserted at the ATG codon in exon 1 of Gad1. Homozygous mutant mice are rethal. A loxP flanked neo was removed by crossing with cre mice.
Colony maintenanceArx: Heterozygote (female) x Wild-type (male); Gad1: Heterozygote x Wild-type [or Crossing to C57BL/6JJcl]
References
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns W B, Yokoyama M, Morohashi K
Nat Genet. 2002 32(3):359-69. 12379852

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
EGFPEnhanced Green Fluorescent Protein (Aequorea victoria)2EGFP
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • Gad1glutamate decarboxylase 12Gad1targeted mutation 1.1, Nobuaki Tamamaki
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • loxPphage P1 loxP2loxP
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • Arxaristaless related homeoboxXArxtargeted mutation 1, Kunio Kitamura
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • IRESinternal ribosomal entry site (EMCV)X
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • lacZbeta-galactosidase (E. coli)X
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • neoneomycin resistance gene (E. coli)Xmouse phosphoglycerate kinase promoter (PGK promoter)
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)
    • SV40 polyA signal
  • corpus callosum agenesis-abnormal genitalia syndrome(MedGEN)

  • developmental and epileptic encephalopathy 89(MedGEN)

  • developmental and epileptic encephalopathy, 1(MedGEN)
    • more 3 Diseases
  • intellectual disability, X-linked, with or without seizures, arx-related(MedGEN)

  • Partington syndrome(MedGEN)

  • X-linked lissencephaly with abnormal genitalia(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal brain internal capsule morphology(MP:0008128)

  • abnormal central medial nucleus morphology(MP:0008929)

  • abnormal corpus callosum morphology(MP:0000780)

  • abnormal cortical marginal zone morphology(MP:0000792)

  • abnormal cortical plate morphology(MP:0008439)
    • more 25 phenotypes
  • abnormal cortical ventricular zone morphology(MP:0008458)

  • abnormal dentate gyrus morphology(MP:0000812)

  • abnormal fetal Leydig cell differentiation(MP:0013603)

  • abnormal forebrain development(MP:0003232)

  • abnormal glutaminergic neuron morphology(MP:0003247)

  • abnormal hippocampus CA3 region morphology(MP:0008267)

  • abnormal hippocampus development(MP:0000808)

  • abnormal neocortex morphology(MP:0008547)

  • abnormal nervous system tract morphology(MP:0000778)

  • abnormal neuronal migration(MP:0006009)

  • abnormal olfactory bulb morphology(MP:0000819)

  • abnormal telencephalon development(MP:0000934)

  • abnormal telencephalon morphology(MP:0000787)

  • abnormal thalamus morphology(MP:0000832)

  • absent hippocampal commissure(MP:0008223)

  • absent hippocampal fimbria(MP:0009324)

  • decreased brain size(MP:0000774)

  • enlarged seminiferous tubules(MP:0006308)

  • enlarged third ventricle(MP:0008536)

  • neonatal lethality, complete penetrance(MP:0011087)

  • nervous system phenotype(MP:0003631)

  • seminal vesicle hypoplasia(MP:0005148)

  • small olfactory bulb(MP:0002741)

  • small testis(MP:0001147)

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

    Ordering Information

    Donor DNASTOP sequence, Encephalomyocarditis virus (EMCV) internal ribosomal entry site (ires), beta-galactosidase (E. coli), PolyA signal (SV40), mouse phosphoglycerate kinase promoter (PGK promoter), Neomycin resistance gene (E. coli), ARX genomic DNA (mouse), GFP cDNA (Jellyfish), phage P1 loxP site, Gad1 genomic DNA (mouse)
    Research applicationCre/loxP system
    Fluorescent Proteins/lacZ System
    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