Mouse Models: SCID/BLAJ

SCID/BLAJ mice

Availability:
Please contact the Jain Foundation:

Jain Foundation Inc.
2310 130th Ave. NE, Suite B101
Bellevue, WA 98005 USA
Phone: 425-882-1492
Fax: 425-882-1050

Development:
The 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 has yet to publish an initial characterization of these animals, but has generously made them available to the dysferlin research community.

Mutation:
An ETn retrotransposon (5-6kb) is inserted in intron 4 of the dysferlin gene.

References:

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