Strain Data Sheet

RBRC02715

Strain Information

Image
BRC No.RBRC02715
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129P2-Epm2a<tm1Kzy>
Former Common nameEpm2a-KO
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
Ganesh S, Delgado-Escueta A V, Sakamoto T, Avila M R, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala K L, Hasegawa Y, Bai D S, Ishihara T, Hashikawa T, Itohara S, Cornford E M, Niki H, Yamakawa K
Hum. Mol. Genet., 11, 1251-1262 (2002). 12019206

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Epm2aepilepsy, progressive myoclonic epilepsy, type 2 gene alpha10Epm2atargeted mutation 1, Kazuhiro Yamakawa
  • Lafora disease(DisGeNET, MedGEN)
  • neoneomycin resistance gene (E. coli)10mouse phosphoglycerate kinase promoter (PGK promoter)
  • Lafora disease(DisGeNET, MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • Lafora bodies(MP:0014063)

  • Purkinje cell degeneration(MP:0000876)

  • abnormal adipose tissue amount(MP:0005452)

  • abnormal brain wave pattern(MP:0004994)

  • abnormal cardiac muscle cell glucose uptake(MP:0004039)
  • more 35 phenotypes
  • abnormal drinking behavior(MP:0001422)

  • abnormal enzyme/coenzyme level(MP:0005319)

  • abnormal heart morphology(MP:0000266)

  • abnormal neuron morphology(MP:0002882)

  • abnormal passive avoidance behavior(MP:0002799)

  • ataxia(MP:0001393)

  • axon degeneration(MP:0005405)

  • decreased grip strength(MP:0010053)

  • hepatic steatosis(MP:0002628)

  • hippocampal neuron degeneration(MP:0000811)

  • hypoglycemia(MP:0000189)

  • impaired balance(MP:0001525)

  • impaired coordination(MP:0001405)

  • improved glucose tolerance(MP:0005292)

  • increased body fat mass(MP:0014142)

  • increased body weight(MP:0001260)

  • increased cardiac muscle cell glucose uptake(MP:0030018)

  • increased cardiac muscle glycogen level(MP:0014071)

  • increased circulating cholesterol level(MP:0005178)

  • increased circulating free fatty acids level(MP:0001554)

  • increased circulating ketone body level(MP:0002575)

  • increased circulating triglyceride level(MP:0001552)

  • increased energy expenditure(MP:0004889)

  • increased fluid intake(MP:0011941)

  • increased glycogen level(MP:0005440)

  • increased insulin sensitivity(MP:0002891)

  • increased liver cholesterol level(MP:0010027)

  • increased liver triglyceride level(MP:0009355)

  • increased neuron apoptosis(MP:0003203)

  • increased oxygen consumption(MP:0005289)

  • increased respiratory quotient(MP:0010378)

  • increased startle reflex(MP:0001488)

  • muscle weakness(MP:0000747)

  • myoclonus(MP:0000243)

  • polyphagia(MP:0001433)
  • Detailed phenotype data

    Ordering Information

    Donor DNAmouse phosphoglycerate kinase promoter (PGK promoter), E. coli neo, mouse Epm2a genomic DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Hum. Mol. Genet., 11, 1251-1262 (2002). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT agrees to use the BIOLOGICAL RESOURCE only for publication of research papers. The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use with the results from the use of the BIOLOGICAL RESOURCE.
    DepositorKazuhiro Yamakawa (RIKEN)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data