Strain Data Sheet

RBRC02262

Strain Information

Image
BRC No.RBRC02262
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129S-Zfhx2<tm3Ymri>
Former Common nameS5-KO (C57BL/6J)
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strain
Appearance
Strain developmentDeveloped by Tetsuo Yamamori, National Institute for Basic Biology. E14 ES cells were used. The mutant mice were backcrossed to C57BL/6J. S5 line.
Strain descriptionZfhx2 knockout mice. Exons 2 to 6 were replaced with a EGFP-pA and TK-neo-pA cassettes.Marsili syndrome is caused by a point mutation in ZFHX2 gene. The Marsili syndrome is a human Mendelian disorder and the symptom is insensitivity to pain. Zfhx2-global knockout mice also show the unusual pain perception phenotype.
Colony maintenance
References
Novel transcription factor zfh-5 is negatively regulated by its own antisense RNA in mouse brain.
Komine Y, Nakamura K, Katsuki M, Yamamori T
Mol. Cell. Neurosci., 31, 273-283 (2006). 16257534

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
GFP Green Fluorescent Protein (Aequorea victoria)14
Zfhx2
MGI:2686934		zinc finger homeobox 214Zfhx2<tm3Ymri> targeted mutation 3, Tetsuo Yamamori
  • indifference to pain, congenital, autosomal dominant(MedGEN)
    • neo neomycin resistance gene (E. coli)14 herpes simplex virus thymidine kinase promoter (HSV tk promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • obsolete no phenotypic analysis(MP:0003012)
    • Detailed phenotype data

    Ordering Information

    Donor DNAJellyfish GFP(Green Fluorescent Protein) cDNA, SV40 polyA, herpes simplex virus thymidine kinase promoter (HSV tk promoter), E coli neo, HSV tk poly A (pMC1 neo-poly A GenBank:U43612), mouse Zfhx2 genomic DNA
    Research applicationFluorescent Proteins/lacZ 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. Mol. Cell. Neurosci., 31, 273-283 (2006). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT agrees to use the BIOLOGICAL RESOURCE only for publication of research papers.Prior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must contact the DEVELOPER Dr. Yuriko Komine (ykomine@nibb.ac.jp) of National Institutes for Basic Research. The RECIPIENT must contact the DEVELOPER Dr. Yuriko Komine (ykomine@nibb.ac.jp) of National Institutes for Basic Research in the case of application for any patents or commercial use with the results from the use of the BIOLOGICAL RESOURCE.
    DepositorTetsuo Yamamori (National Institute for Basic Biology)
    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: 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 Apr 2019

    BRC mice in Publications

    Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ.
    A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
    Brain 141(2) 365-376(2018) 29253101