Mice homozygous for the cmo spontaneous mutation are viable and fertile and live a normal life span. Homozygous mutant mice of both sexes exhibit multiple sites of inflammation in the bone. By 6-8 weeks of age kinks or swellings in the tail are evident. Hind and fore paws become swollen and red with severe deformity by three months of age. The phenotype of this mouse resembles human chronic recurrent multiple osteomyelitis.
The chronic multifocal osteomyelitis mutation was first identified by Byrd et al. on their C.D2-Qa2+ congenic strain, then at N6F15. This congenic strain came from backcrossing Qa2 from DBA/2N onto BALB/cAnPt. BALB/cAnPt differs at H2-Qa2 from other sublines of BALB/c, which share the H2d haplotype with DBA/2. In 1996 N13F7 mice homozygous for cmo were sent from Dr. Michael Potter to The Jackson Laboratory where homozygotes were bred together to generate embryos for cryopreservation.
|Allele Name||chronic multifocal osteomyelitis|
|Gene Symbol and Name||Pstpip2, proline-serine-threonine phosphatase-interacting protein 2|
|Strain of Origin||C.D2-Qa2|
|Molecular Note||Sequncing revealed a T-to-C transversion at coding nucleotide 293 that results in a highly conserved leucine to be replaced with a proline at amino acid position 98 (p.L98P).|
When using the chronic multifocal osteomyelitis mouse strain in a publication, please cite the originating article(s) and include JAX stock #002864 in your Materials and Methods section.