Strain Data Sheet

RBRC09998

Strain Information

Image
BRC No.RBRC09998
TypeSpontaneous Mutation Congenic
SpeciesMus musculus
Strain nameB6J.ICR-Tpo<R479C>/Ham
Former Common nameB6.ICR-Tpo
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Shuji Takabayashi, Hamamatsu University School of Medicine in 2006. A spontaneous mutation found in Jcl:ICR was backcrossed to C57BL/6J for 12 generations, and then mice were maintained by sister-brother mating for 30 generations.
Strain descriptionSpontaneous mutant harboring a missense mutation from C to T at position 1608 of the thyroid peroxidase (Tpo) gene. This mutation results in amino acid exchange from Arg to Cys at 479th amino acid.
Colony maintenance
References
A novel hypothyroid dwarfism due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse.
Shuji Takabayashi, Kazumi Umeki, Etsuko Yamamoto, Tohru Suzuki, Akihiko Okayama, Hideki Katoh
Mol. Endocrinol., 20, 2584-2590 (2006). 16762971

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Tpo
MGI:98813		thyroid peroxidase12Tpo<R479C-Ham>
MGI:3665236		thyroid peroxidase; R479C
  • congenital hypothyroidism(DisGeNET)

  • thyroid dyshormonogenesis 2A(MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • abnormal enzyme/coenzyme activity (MP:0005584)

  • abnormal thyroid follicle morphology (MP:0004696)

  • abnormal thyroid follicular cell morphology (MP:0004697)

  • decreased body size (MP:0001265)

  • decreased body weight (MP:0001262)
    • more 9 phenotypes
  • decreased erythrocyte cell number (MP:0002875)

  • decreased hematocrit (MP:0000208)

  • disproportionate dwarf (MP:0002427)

  • enlarged thyroid gland (MP:0005355)

  • exophthalmos (MP:0002750)

  • increased circulating thyroid-stimulating hormone level (MP:0005122)

  • premature death (MP:0002083)

  • prominent forehead (MP:0030049)

  • small spleen (MP:0000692)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationEndocrine Deficiency Research
    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. Mol. Endocrinol., 20, 2584-2590 (2006).In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorShuji Takabayashi (Hamamatsu University School of Medicine)
    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)

    BRC mice in Publications

    No Data