RBRC02262

Information1

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
ReferencesMol. Cell. Neurosci., 31, 273-283 (2006). 16257534

Health Report

Examination Date / Room / Rack2014/01/20Room:4-ARack:L
2013/12/04Room:4-ARack:L
2013/11/25Room:4-ARack:L
2013/11/25Room:4-ARack:L
2013/11/25Room:4-ARack:L
2013/09/24Room:4-ARack:L

Gene

Gene info
Gene symbolGene nameChr.Allele symbolAllele namePromoter
Zfhx2zinc finger homeobox 214Zfhx2<tm3Ymri>targeted mutation 3, Tetsuo Yamamori

Gene symbolGene nameChr.Allele symbolAllele namePromoter
GFPGreen Fluorescent Protein (Jellyfish)14

Gene symbolGene nameChr.Allele symbolAllele namePromoter
neoneomycin resistance gene (E. coli)14herpes simplex virus thymidine kinase promoter (HSV tk promoter)

Information2

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.Genotyping protocol -PCR-
GFP Transfer License (Japanese / English)
Please fill in the Schedule A, and submit two signed copies to us together with two signed copies of RIKEN BRC's MTA. Please also read Schedule B.
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