Strain Data Sheet

RBRC12043

Strain Information

Image
BRC No.RBRC12043
TypeCRISPR/Cas9Cartagena
SpeciesMus musculus
Strain nameICR-Edn3<em1Hku>
Former Common nameET3KO
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.
Yukiko Kurihara, Toru Ekimoto, Christopher T Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara
J. Clin. Invest., 133(4)e151536 (2023). 36637912

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Edn3
MGI:95285		endothelin 32Edn3<em1Hku> endonuclease-mediated mutation 1, Hiroki Kurihara
  • Hirschsprung disease, susceptibility to, 4(MedGEN)

  • Waardenburg syndrome type 4B(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
    Detailed phenotype data

    Ordering Information

    Donor DNAStreptococcus pyogenes crRNA, tracrRNA, Cas9*, Mouse a part of Edn3 gene. * Not detected by PCR using Marker Gene Detection kit (TOYOBO, Osaka, Japan).
    Research applicationMouse 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. J. Clin. Invest., 133(4)e151536 (2023).In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorYukiko Kurihara (The University of Tokyo)
    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. Order form (Japanese / English)
    2. Category I MTA: CRISPR/Cas9 genome edited bioresources (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    BRC mice in Publications

    No Data