Strain Data Sheet

RBRC03438

Strain Information

Image
BRC No.RBRC03438
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129P2-Arx<tm1Kki>/6Rbrc
Former Common nameArx-6 KO
H-2 Haplotype
ES Cell lineE14TG2a [129P2/OlaHsd]
Background strain
Appearance
Strain developmentDeveloped by Kunio Kitamura, Mitsubishi Kagaku Institute of Life Sciences. E14 ES cells were used to generate the mutant mice.
Strain descriptionArx gene knockout mice. A lacZ-neo cassette was inserted into the exon 2 of Arx gene. Hemizygous (-/Y) mutant males die within 12 hrs after birth. Main line: Arx-6 KO (RBRC03438).
Colony maintenanceHeterozygote (female) x Wild-type (male)[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
SV40 polyA signalX
  • 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)
    • Arxaristaless related homeoboxXArxtargeted mutation 1, 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)
    • IRESinternal ribosomal entry site (EMCV)X
  • 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)
    • lacZbeta-galactosidase (E. coli)X
  • 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)
    • neoneomycin resistance gene (E. coli)Xherpes simplex virus thymidine kinase promoter (HSV tk promoter)
  • 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 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 37 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 lateral ganglionic eminence morphology(MP:0004277)

  • abnormal medial ganglionic eminence morphology(MP:0004276)

  • abnormal neocortex morphology(MP:0008547)

  • abnormal nervous system tract morphology(MP:0000778)

  • abnormal neuronal migration(MP:0006009)

  • abnormal olfactory bulb development(MP:0002739)

  • abnormal olfactory bulb interneuron morphology(MP:0009941)

  • abnormal olfactory bulb mitral cell layer morphology(MP:0009951)

  • abnormal olfactory bulb morphology(MP:0000819)

  • abnormal olfactory bulb periglomerular cell morphology(MP:0009943)

  • abnormal olfactory bulb subventricular zone morphology(MP:0009952)

  • abnormal olfactory epithelium morphology(MP:0008789)

  • abnormal rostral migratory stream morphology(MP:0004279)

  • abnormal telencephalon development(MP:0000934)

  • abnormal telencephalon morphology(MP:0000787)

  • abnormal testis tunica vaginalis morphology(MP:0013739)

  • abnormal testosterone level(MP:0011385)

  • abnormal thalamus morphology(MP:0000832)

  • absent hippocampal commissure(MP:0008223)

  • absent hippocampal fimbria(MP:0009324)

  • decreased Leydig cell number(MP:0005536)

  • decreased brain size(MP:0000774)

  • enlarged brain ventricles(MP:0011380)

  • enlarged seminiferous tubules(MP:0006308)

  • enlarged third ventricle(MP:0008536)

  • neonatal lethality, complete penetrance(MP:0011087)

  • 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 DNAARX genomic DNA (mouse), beta-galactosidase (E. coli), Neomycin resistance gene (E. coli), herpes simplex virus thymidine kinase promoter (HSV tk promoter), SV40 PolyA signal, Encephalomyocarditis virus (EMCV) internal ribosomal entry site (ires), STOP sequence
    Research applicationFluorescent Proteins/lacZ System
    Mouse Models for Human Disease
    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
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovery and QC required prior to distribution
    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)

    BRC mice in Publications

    No Data