Strain Data Sheet

RBRC09538

Strain Information

Image
BRC No.RBRC09538
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6-Tgfbi<tm1(TGFBI)Dokm>
Former Common nameTGFBi R124H
H-2 Haplotype
ES Cell lineBruce 4 [B6.Cg-Thy1<a>]
Background strainC57BL/6JJcl
Appearance
Strain development
Strain description
Colony maintenance
References
Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.
Yamazoe K, Yoshida S, Yasuda M, Hatou S, Inagaki E, Ogawa Y, Tsubota K, Shimmura S
PLoS One, 10(7):e0133397 (2015). 26197481

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Frt yeast FRT (flippase recombination target) site13Frt
TGFBI transforming growth factor, beta induced (human)13TGFBI
Tgfbi
MGI:99959		transforming growth factor, beta induced13Tgfbi<tm1(TGFBI)Dokm> targeted mutation 1, Department of Ophtalomology, Keio University school of Medicine
  • corneal dystrophy, lattice type 3A(MedGEN)

  • epithelial basement membrane dystrophy(MedGEN)

  • granular corneal dystrophy type II(DisGeNET, MedGEN)
    • more 4 Diseases
  • granular corneal dystrophy type I(MedGEN)

  • lattice corneal dystrophy type I(DisGeNET, MedGEN)

  • Reis-Bucklers corneal dystrophy(DisGeNET, MedGEN)

  • Thiel-Behnke corneal dystrophy(MedGEN)
    • loxP phage P1 loxP13loxP
    loxP phage P1 loxP13loxP

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • cornea opacity(MP:0001314)
    • Detailed phenotype data

    Ordering Information

    Donor DNAPhage P1 loxP sites, human TGFBI (R124H) cDNA, SV40 polyA, yeast FRT (flipase recombination target) site, mouse Tgfbi genomic DNA
    Research applicationCre/loxP system
    FLP/frt system
    Mouse Models for Human Disease
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. PLoS One, 10(7):e0133397 (2015). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorShigeto Shimmura (Keio 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. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-
    Mouse of the Month Mar 2016

    BRC mice in Publications

    No Data