Strain Data Sheet

RBRC09758

Strain Information

Image
BRC No.RBRC09758
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129P2-Chd8<tm1Kei>
Former Common nameChd8/Duplin KO
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strainC57BL/6JJcl
Appearance
Strain developmentDeposited by Keiichi Nakayama, Medical Institute of Bioregulation, Kyusyu University in 2016. E14(129P2/OlaHsd) ES cell line was used. Mixed genetic background in C57BL/6 and 129P2.
Strain descriptionChd8 (chromodomain helicase DNA binding protein 8) knockout mice. Homozygous mutants are lethal. Heterozygous mutant displays autistic like behavior. All exons were replaced by loxP-neo cassette. Mouse strain carrying deletion of only long isoform of Chd8 (Chd8l) is available as RBRC09759.
Colony maintenance
References
CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis.
Nishiyama M, Oshikawa K, Tsukada Y, Nakagawa T, Iemura S, Natsume T, Fan Y, Kikuchi A, Skoultchi A I, Nakayama K I
Nature Cell Biol., 11: 172-182 (2009). 19151705

Early embryonic death in mice lacking the beta-catenin-binding protein Duplin.
Nishiyama M, Nakayama K, Tsunematsu R, Tsukiyama T, Kikuchi A, Nakayama K I
Mol. Cell. Biol., 24: 8386-8394 (2004). 15367660

CHD8 haploinsufficiency results in autistic-like phenotypes in mice.
Katayama Y, Nishiyama M, Shoji H, Ohkawa Y, Kawamura A, Sato T, Suyama M, Takumi T, Miyakawa T, Nakayama K I
Nature, 537(7622):675-679 (2016). 27602517

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
SV40 polyA signal14
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)
    • Chd8chromodomain helicase DNA binding protein 814Chd8targeted mutation 1, Keiichi I Nakayama
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)
    • loxPphage P1 loxP14loxP
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)
    • loxPphage P1 loxP14loxP
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)
    • neoneomycin resistance gene (E. coli)14mouse phosphoglycerate kinase promoter (PGK promoter)
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal inner cell mass morphology(MP:0002718)

  • abnormal intestinal transit time(MP:0006001)

  • abnormal social investigation(MP:0001360)

  • absent mesoderm(MP:0001683)

  • decreased intestine length(MP:0013916)
    • more 10 phenotypes
  • decreased startle reflex(MP:0001489)

  • embryonic growth arrest(MP:0001730)

  • embryonic lethality, complete penetrance(MP:0011092)

  • failure of primitive streak formation(MP:0001693)

  • increased anxiety-related response(MP:0001363)

  • increased brain weight(MP:0002176)

  • increased ectoderm apoptosis(MP:0003895)

  • increased prepulse inhibition(MP:0009141)

  • inner cell mass degeneration(MP:0004965)

  • megacephaly(MP:0000434)
    • Detailed phenotype data

    Ordering Information

    Donor DNABacteriophage P1 loxP sites, Mouse phosphoglycerate kinase promoter, E. coli Neomycin resistant gene, SV40 PolyA signal, mouse Chd8 genomic DNA
    Research applicationCre/loxP system
    Mouse Models for Human Disease
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form. The RECIPIENT agrees to use this BIOLOGICAL RESOURCE as a collaboration with the DEPOSITOR.
    DepositorKeiichi Nakayama (Kyushu University)
    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-
    Mouse of the Month Nov 2018

    BRC mice in Publications

    No Data