Strain Data Sheet

RBRC-GD000110

Strain Information

Image
BRC No.RBRC-GD000110
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameTardbp<Rgsc02223>
Former Common nameM102223, LCDmut (M323K)
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain descriptionMutant mouse strain established by RIKEN ENU-based gene-driven mutagenesis. Gene: Tardbp, Substitution: T→A
Colony maintenance
References
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Pietro Fratta, Prasanth Sivakumar, Jack Humphrey, Kitty Lo, Thomas Ricketts, Hugo Oliveira, Jose M Brito-Armas, Bernadett Kalmar, Agnieszka Ule, Yichao Yu, Nicol Birsa, Cristian Bodo, Toby Collins, Alexander E Conicella, Alan Mejia Maza, Alessandro Marrero-Gagliardi, Michelle Stewart, Joffrey Mianne, Silvia Corrochano, Warren Emmett, Gemma Codner, Michael Groves, Ryutaro Fukumura, Yoichi Gondo, Mark Lythgoe, Erwin Pauws, Emma Peskett, Philip Stanier, Lydia Teboul, Martina Hallegger, Andrea Calvo, Adriano Chiò, Adrian M Isaacs, Nicolas L Fawzi, Eric Wang, David E Housman, Francisco Baralle, Linda Greensmith, Emanuele Buratti, Vincent Plagnol, Elizabeth Mc Fisher, Abraham Acevedo-Arozena
EMBO J. 2018 Jun 1;37(11). 29764981

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Tardbp
MGI:2387629		TAR DNA binding protein4Tardbp<Rgsc02223> RIKEN Genomic Sciences Center (GSC), 2223
  • amyotrophic lateral sclerosis type 10(DisGeNET, MedGEN)

    • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • decreased grip strength (MP:0010053)

  • decreased motor neuron number (MP:0000939)

  • mortality/aging (MP:0010768)

  • prenatal lethality, complete penetrance (MP:0011091)

  • prenatal lethality, incomplete penetrance (MP:0011101)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsThe RECIPIENT of for-profit institution must contact the DEPOSITOR separately.
    The RECIPIENT of not for-profit institution must contact and discuss in good faith with the DEPOSITOR regarding inventorship, ownership, patent filing and licese fees and others, prior to filing a patent or make a contract with license fees with a third party for invention or products obtained from research results by using the BIOLOGICAL RESOURCES.
    DepositorYoichi Gondo (RIKEN GSC)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.
    Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
    EMBO J 37(11) (2018) 29764981