Mouse Models: A/J
The Jackson Laboratory
Stock number: 000646
Strain information: http://jaxmice.jax.org/strain/000646.html
Phone: 800-422-MICE (800-422-6423)
610 Main Street, Bar Harbor, Maine 04609 USA
This inbred strain contains a naturally-occurring dysferlin mutation and was originally developed from a cross between a Cold Spring Harbor albino and a Bagg albino.
An ETn retrotransposon (5-6kb) is inserted in intron 4 of the dysferlin gene.
Histological evidence of dystrophy is not seen until 4-5 months of age and muscle weakness progresses slowly. Abdominal muscles are most severely affected, followed by proximal muscles and then distal muscles. The mice also have other symptoms, including a high incidence of lung adenomas and mammary adenocarcenomas. They are homozygous for an age related hearing loss allele (Cdh23 gene) and for hemolytic complement deficiency (C5, Hc gene).
Comparison with other disease strains:
Disease progression is slightly slower than in SJL/J, Dysf-/- (Campbell), Dysf-/- (Brown), and C57BL/10.SJL mice. As in both SJL/J and Dysf-/- (Brown) mice, proximal muscles are more severely affected than distal muscles. As in Dysf-/- (Brown) mice, abdominal muscles are also affected.
Ho M, et al. 2004. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Human Molecular Genetics 13:1999-2010.