Strain Data Sheet

RBRC10058

Strain Information

Image
BRC No.RBRC10058
TypeSpontaneous Mutation Congenic
SpeciesMus musculus
Strain nameC3H.Cg-Eif2b5<toy>
Former Common nameC3HToy, Eif2b5<I98M>
H-2 Haplotype
ES Cell line
Background strainC3H/HeNCrl
Appearance
Strain developmentDeveloped by Mika Tsujita, Brain Research Institute, Niigata University in 2008. Point mutation was identified in 2012. C3H/HeN genetic background.
Strain descriptionSpontaneous mutants exhibiting phenotypes similar to the Vanishing white matter disease. A point mutation (I98M) in the Eif2b5 (eukaryotic translation initiation factor 2B, subunit 5 epsilon) gene. Homozygous mutants show decreased body weight (starting around 3 weeks old) and impaired motor coordination. Homozygous mice are infertile, but sperms can be used for in vitro fertilization. WT: GCTGCTCAGATCAAAGAACACTTAToy: GCTGCTCAGATGAAAGAACACTTA
Colony maintenance
References
Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Terumitsu-Tsujita M, Kitaura H, Miura I, Kiyama Y, Goto F, Muraki Y, Ominato S, Hara N, Simankova A, Bizen N, Kashiwagi K, Ito T, Toyoshima Y, Kakita A, Manabe T, Wakana S, Takebayashi H, Igarashi H
J. Neurochem., 154(1):25-40 (2020). 31587290

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Eif2b5
MGI:2446176
eukaryotic translation initiation factor 2B, subunit 5 epsilon16Eif2b5<toy> eukaryotic translation initiation factor 2B, subunit 5 epsilon; toy
  • obsolete leukoencephalopathy with vanishing white matter(DisGeNET, MedGEN)

  • obsolete ovarioleukodystrophy(DisGeNET)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • athetotic walking movements(MP:0001527)

  • premature death(MP:0002083)
  • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    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. J. Neurochem., 154(1):25-40 (2020).
    DepositorMika Terumitsu-Tsujita (Niigata University)
    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)

    Mouse of the Month Oct 2021

    BRC mice in Publications

    No Data