Strain Data Sheet

RBRC11308

Strain Information

Image
BRC No.RBRC11308
TypeTargeted Mutation and Spontaneous MutationCartagena
SpeciesMus musculus
Strain nameB6;129-Pax3<dl1Rmps>
Former Common namePax3 deficient mouse
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeposited by Takeo Yoshikawa, RIKEN in 2021.
Strain descriptionSpontaneous mutant deleting 841 bp at the genomic area of promoter, exon 1 and intron 1 of the Pax3 gene.
Colony maintenance
References
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
Gene, 607, 16-22 (2017). 28043919

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Pax3
MGI:97487		paired box 31Pax3<dl1Rmps>
  • alveolar rhabdomyosarcoma(DisGeNET, MedGEN)

  • craniofacial-deafness-hand syndrome(MedGEN)

  • Waardenburg syndrome type 1(DisGeNET, MedGEN)
    • more 2 Diseases
  • Waardenburg syndrome type 3(MedGEN)

  • Waardenburg syndrome(DisGeNET)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal embryo morphology (MP:0014134)

  • abnormal hind foot hair pigmentation (MP:0009934)

  • abnormal tail hair pigmentation (MP:0009933)

  • abnormal ventral coat pigmentation (MP:0008237)

  • belly spot (MP:0000373)
    • more 6 phenotypes
  • curly tail (MP:0003051)

  • decreased embryo size (MP:0001698)

  • embryonic lethality (MP:0008762)

  • open neural tube (MP:0000929)

  • spina bifida (MP:0003054)

  • transverse fur striping (MP:0010231)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse 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. 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. Gene, 607, 16-22 (2017).
    DepositorTakeo Yoshikawa (RIKEN CBS)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovery and QC required prior to distribution
    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)

    BRC mice in Publications

    No Data