Strain Data Sheet

RBRC04937

Strain Information

Image
BRC No.RBRC04937
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129S4-Atrx<tm1Enl>
Former Common nameB6-Atrx KO (ATRX<deltaE2>)
H-2 Haplotype
ES Cell lineJ1 [129S4/SvJae]
Background strain
Appearance
Strain developmentDeveloped by Hideyuki Beppu and En Li, Massachusetts General Hospital, Harvard Medical School.
Strain description
Colony maintenanceHeterozygote (female), Hemizygote (male) x Wild-type [C57BL/6JJmsSlc]
References
Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.
Norifumi Shioda, Hideyuki Beppu, Takaichi Fukuda, En Li, Isao Kitajima, Kohji Fukunaga
J. Neurosci., 31, 346-358 (2011). 21209221

Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.
Tatsuya Nogami, Hideyuki Beppu, Takashi Tokoro, Shigeki Moriguchi, Norifumi Shioda, Kohji Fukunaga, Toshihisa Ohtsuka, Yoko Ishii, Masakiyo Sasahara, Yutaka Shimada, Hisao Nishijo, En Li, Isao Kitajima
Hippocampus, 21, 678-687 (2011). 20865721

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Atrx
MGI:103067		ATRX, chromatin remodelerXAtrx<tm1Enl>
MGI:4888669		targeted mutation 1, En Li
  • alpha thalassemia-X-linked intellectual disability syndrome(DisGeNET, MedGEN)

  • alpha-thalassemia-myelodysplastic syndrome(MedGEN)

  • intellectual disability-hypotonic facies syndrome, X-linked, 1(MedGEN)
    • IRES internal ribosomal entry site (EMCV)X
    lacZ beta-galactosidase (E. coli)X
    neo neomycin resistance gene (E. coli)X

    Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • decreased body weight (MP:0001262)

  • impaired contextual conditioning behavior (MP:0009454)

  • prenatal lethality, incomplete penetrance (MP:0011101)

  • reduced long-term potentiation (MP:0001473)
    • Detailed phenotype data

    Ordering Information

    Donor DNAMouse En-2 splicing acceptor, Encephalomyocarditis virus Internal ribosome-entry site, E. coli LacZ, E. coli Neomycin resistance gene, SV40 PolyA signal
    Research applicationMouse Models for Human Disease
    Neurobiology Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Hippocampus, 21, 678-687 (2011). 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 Massachusetts General Hospital (Boston, USA) and must obtain a prior written consent from the DEPOSITOR and Massachusetts Genearal Hospital.
    DepositorHideyuki Beppu (University of Toyama)
    Strain Statusan 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. 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

    Yamaguchi K, Shioda N, Yabuki Y, Zhang C, Han F, Fukunaga K.
    SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome.
    Int J Mol Sci 19(9) (2018) 30231518
    Shioda N, Yabuki Y, Yamaguchi K, Onozato M, Li Y, Kurosawa K, Tanabe H, Okamoto N, Era T, Sugiyama H, Wada T, Fukunaga K.
    Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.
    Nat Med 24(6) 802-813(2018) 29785027