Strain Data Sheet

RBRC09759

Strain Information

Image
BRC No.RBRC09759
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129P2-Chd8<tm2.1Kei>
Former Common nameChd8L 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. C57BL/6 congenic strain.
Strain descriptionChd8l (chromodomain helicase DNA binding protein 8 long isoform) knockout mice. Homozygous mutants are lethal. A pair of loxP sites with a neo gene cassette flanking exons 11 to 13, and then these exons were deleted by Cre expression in ES cells. Mouse strain carrying deletion of both long isoform (Chd8l) and short isoform (Chd8s) is available as RBRC09758.
Colony maintenance
References
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
Chd8chromodomain helicase DNA binding protein 814Chd8targeted mutation 2.1, Keiichi I Nakayama
  • intellectual developmental disorder with autism and macrocephaly(MedGEN)
    • loxPphage P1 loxP14loxP
  • 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 nervous system development(MP:0003861)

  • abnormal social investigation(MP:0001360)

  • absent mesoderm(MP:0001683)
    • more 13 phenotypes
  • decreased intestine length(MP:0013916)

  • decreased startle reflex(MP:0001489)

  • embryonic growth arrest(MP:0001730)

  • embryonic lethality during organogenesis, complete penetrance(MP:0011098)

  • embryonic lethality, complete penetrance(MP:0011092)

  • failure of primitive streak formation(MP:0001693)

  • impaired learning(MP:0012315)

  • 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 site, 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 spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Cryopreserved sperm (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