Strain Data Sheet

RBRC04774

Strain Information

Image
BRC No.RBRC04774
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129S4-Dnmt1<tm1Okan>/Rbrc
Former Common nameDnmt1(Cys1229Ser), Dnmt1<tm1Okan> (Acc.No.CDB0500K)
H-2 Haplotype
ES Cell lineJ1 [129S4/SvJae]
Background strain
Appearance
Strain developmentDeveloped by Dr. Masaki Okano, Center for Developmental Biology RIKEN. A point mutation in exon 32 of the Dnmt1 gene introduced an amino acid substitution Cys1229Ser. An IRES-betageo cassette was inserted into an upstream of the point mutation and was removed by cre-mediated recombination.
Strain descriptionDNA methltransferase 1 gene C1229S knock-in mice. A point mutation in exon 32 of the Dnmt1 gene introduced an amino acid substitution Cys1229Ser. The mutant allele that expresses a C1229S mutated protein lacks catalytic activity. The C1229S mutant mice show developmental arrest, near-complete loss of DNA methylation, and an altered distribution of repressive chromatin markers. Embryonic lethal (E8.0-8.5).
Colony maintenance
References
Major and essential role for the DNA methylation mark in mouse embryogenesis and stable association of DNMT1 with newly replicated regions.
Takebayashi S, Tamura T, Matsuoka C, Okano M
Mol. Cell. Biol., 27, 8243-8258 (2007). 17893328

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Dnmt1DNA methyltransferase 19Dnmt1targeted mutation 1, Masaki Okano
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy(MedGEN)

  • hereditary sensory neuropathy-deafness-dementia syndrome(MedGEN)
    • loxPphage P1 loxP9loxP
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy(MedGEN)

  • hereditary sensory neuropathy-deafness-dementia syndrome(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • decreased cell proliferation(MP:0000352)

  • embryonic growth arrest(MP:0001730)

  • failure of initiation of embryo turning(MP:0004180)

  • failure of somite differentiation(MP:0001690)

  • open neural tube(MP:0000929)
    • Detailed phenotype data

    Ordering Information

    Donor DNAphage P1 loxP site, mouse Dnmt1 genomic DNA
    Research applicationCre/loxP system
    Specific Term and Conditions(1) In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the Acc.No.CDB0500K and Web. Site (https://large.riken.jp/distribution/mutant-list.html) is requested. (2) In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the literature designed by the DEPOSITOR is requested. Mol Cell Biol. 2007 27(23):8243-58. (3) The use of the BIOLOGICAL RESOURCE is restricted to academic researchers in non-profit organizations for their internal research and educational purposes.
    DepositorMasaki Okano (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)
    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-
    Mouse of the Month Jun 2011

    BRC mice in Publications

    No Data