Mouse Models: SCID/BLAJ
SCID/BLAJ mice (B6.Cg-Dysfprmd Prkdcscid/J
Jackson Laboratories stock #017917
The first SCID/BLAJ mouse model of dysferlinopathy was created by Dr. Ivan Torrente by backcrossing dysferlin deficient BLA/J mice onto the SCID strain while selecting for the retrotransposon insertion in intron 4 of the dysferlin gene, as well as the absence of specific B- and T- lymphocyte markers (CD4, CD8, and CD19) in cells isolated from peripheral blood. The result is a dysferlin deficient animal model that is also deficient in B and T lymphocytes, and thus more amenable to transplantation studies. Dr. Torrente made the mouse available to the reserach community in a private colony through the Jain Foundation, but due to low usage, the colony was cryopreserved.
The Jackson Laboratories created a second strain of SCID/BLAJ mice in their own laboratories in 2012, which are currently available in live repository.
An ETn retrotransposon (5-6kb) is inserted in intron 4 of the dysferlin gene.
Farini A, Sitzia C, Navarro C, D'Antona G, Belicchi M, Parolini D, Del Fraro G, Razini P, Bottinelli R, Meregalli M, Torrente Y. 2012. Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal models. Exp. Cell Res. March 23.
Diaz-Manera J, Touvier T, Dellavalle A, Tonlorenzi, R, Tedesco FS, Messina G, Meregalli M, Navaro C, Perani L, Bonfani C, Illa I, Torrente Y, Cossu G. 2010. Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full recovery in a murine model of dysferlinopathy. Cell Death Dis. Aug 5:1e61