Strain Data Sheet

RBRC04060

Strain Information

Image
BRC No.RBRC04060
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain name129S6/SvEvTac-Foxp2<tm1Momo>
Former Common nameFoxp2[R552H]-KI
H-2 Haplotype
ES Cell line
Background strain129S6/SvEvTac
Appearance
Strain developmentDeveloped by Mariko Momoi, Jichi Medical School and Takashi Momoi, National Institute of Neuroscience.
Strain descriptionHomozygous mutant mice show ataxia at around 8 days, and are infertile.
Colony maintenance
References
Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells.
Fujita E, Tanabe Y, Shiota A, Ueda M, Suwa K, Momoi M Y, Momoi T
Proc. Natl. Acad. Sci. USA, 105, 3117-3122 (2008). 18287060

Commun Biol.. 8(1):1059 (2025). 40676143

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Foxp2
MGI:2148705		forkhead box P26Foxp2<tm1Momo>
MGI:3778383		targeted mutation 1, Takashi Momoi
  • childhood apraxia of speech(DisGeNET, MedGEN)
    • loxP phage P1 loxP6loxP

    Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal Purkinje cell dendrite morphology (MP:0008572)

  • abnormal barrel cortex morphology (MP:0003989)

  • abnormal cerebellar Purkinje cell layer (MP:0000875)

  • abnormal cerebellar foliation (MP:0000857)

  • abnormal cerebellum morphology (MP:0000849)
    • more 16 phenotypes
  • abnormal motor capabilities/coordination/movement (MP:0002066)

  • abnormal neuron specification (MP:0002948)

  • abnormal parafascicular nucleus morphology (MP:0008927)

  • abnormal subthalamic nucleus morphology (MP:0000835)

  • abnormal thalamus morphology (MP:0000832)

  • abnormal vocalization (MP:0001529)

  • bradykinesia (MP:0005156)

  • decreased body size (MP:0001265)

  • decreased body weight (MP:0001262)

  • decreased brain size (MP:0000774)

  • decreased vocalization (MP:0020351)

  • embryonic lethality, incomplete penetrance (MP:0011102)

  • impaired righting response (MP:0001523)

  • perinatal lethality, incomplete penetrance (MP:0011090)

  • postnatal growth retardation (MP:0001732)

  • small cerebellum (MP:0000852)
    • Detailed phenotype data

    Ordering Information

    Donor DNAbacteriophage P1 loxP site, mouse Foxp2 genomic DNA
    Research applicationCre/loxP system
    Mouse 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. 未定Within a period of two years after deposition of the BIOLOGICAL RESOURCE, the RECIPIENT shall obtain a prior written consent on use of it from the DEPOSITOR. The RECIPIENT must contact the DEPOSITOR and notify him/her a content of the research. If the DEPOSITOR judges that the research should be a collaborative work, then the RECIPIENT must include the DEPOSITOR and/or the DEVELOPER's names as co-authors.
    DepositorTakashi Momoi (National Center of Neurology and Psychiatry/ Jichi Medical 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 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