Peter and Takako Jones Lab

Part of our lab's mission is to generate, characterize and make freely available novel resources for the FSHD field to advance the pace of FSHD therapeutic development. These include both human cell-lines and animal models (fly, mouse, and mini-pigs are on the way) for FSHD. Whenever possible we have deposited these resources into repositories to ensure their propagation, survival, and uninhibited distribution to academics and interested pharmaceutical companies. Lowering barriers to investment of time, money and resources is key for growing the field and ultimately curing the disease.

FLExDUX4 (FLExD): A floxed human DUX4 transgenic FSHD-like mouse model

Available through Jackson Labs

B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)/Plj/J, catalog #028710

When mated to Tg(ACTA1-cre/Esr1*)2Kesr/J line (also called HSA-MCM and ACTA1-mER-cre-mER) of skeletal muscle specific and tamoxifen-inducible cre mice, the FLExDUX4;HSA-MCM double transgenic mice have tamoxifen inducible and dose-dependent DUX4 expression in skeletal muscles. Treatment with tamoxifen results in DUX4 expression and severe muscle pathology.  For details on working with tamoxifen-induced FSHD-like models, please see: T Jones and P Jones (2018) PLoS One 13(2):e0192657 and T Jones et al., (2020) Skeletal Muscle 10:8

Importantly, in the absence of tamoxifen, the double transgenic animals produce mosaic expression of DUX4 in a small fraction of skeletal muscle nuclei throughout their lifetimes resulting in a slowly progressing and cumulative FSHD-like phenotype.  For more information on these aged FSHD-like mouse models, see: Nunes et al., (2021) Disease Models and Mechanisms.

Transgenic Drosophila for investigating FSHD pathogenic mechanisms

Published: T. Jones et al., 2016, PLoS ONE 11(3): e0150938 “Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)”

DUX4 expressing transgenic Drosophila line, P{UASp-hDUX4.MAL}26

Available through Bloomington fly stock center #64455

FRG1 expressing transgenic Drosophila lines, P{UAS-HA-FRG1}11 and P{UAS-HA-FRG1}12

Available through Bloomington fly stock center #64456 and #64457

FSHD family cohorts of 114 lymphoblastoid cell lines

Published: T. Jones et al. 2017, Neuromuscular Disorders (In Press) “Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy”

Available through Coriell Institute for Medical Research Biorepository