Mouse Models: B10.SJL
The Jackson Laboratory
Stock number: 011128
Strain information: http://jaxmice.jax.org/strain/011128.html
Phone: 800-422-MICE (800-422-6423)
610 Main Street, Bar Harbor, Maine 04609 USA
Please note that the Jackson Laboratories has cryopreserved their colony of this strain. The Jain Foundation may be able to help you to locate mice of this strain through a collaborator. Please contact the Jain Foundation:
Jain Foundation Inc.
9725 Third Avenue NE, Suite 204
Seattle, Washington 98115
The inflammatory myopathy (im) mutation was introgressed into C57BL/10ScSnHim for a minimum of 10 generations in the laboratory of Dr. Reginald Bittner at the Medical University of Vienna. Mice from this colony were transferred to Dr. Amy Wagers at the Joslin Diabetes Center and maintained by sibling matings. Dr. Wagers donated the strain to The Jackson Laboratory in 2010. Upon arrival, mice were bred to C57BL/10J for at least 1 generation to establish the colony.
Exon 45 (171 base pairs, aa1628-1685) is deleted in dysferlin mRNA, due to a mutation in the 3’ splice junction. This deletion removes part of the fifth C2 domain (C2E) of the protein.
Disease onset is apparent by 4 weeks of age and is severe by 8 months of age. During the late stage of the disease muscles exhibit fatty and fibrotic tissue as well as inflammatory cells. Affected muscles include the proximal limbs, (quadriceps femoris and triceps brachii) and abdominals. The distal limbs, (gastrocnemius, soleus, and tibialis anterior), diaphragm, and biceps brachii appear to be only mildly affected even in the late stages of the disease. Both pyruvate and creatinine kinase levels are increased.
Comparison with other disease strains:
Disease progression is similar to SJL/J, Dysf-/- (Campbell), and Dysf-/- (Brown) mice, and faster than in A/J mice.
von der Hagen M, et al. 2005. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscular Disorders 15:863-877.