International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Ms. Mary Guarnieri
Wadsworth Center
P.O. Box 22002
Albany, NY 12201

Co-Authors: 1) Cacheiro, NLA,    2) Rudofsky, UH, 2) Collins, DN, 2) Flaherty, LA
Institutions: 1) Life Sciences Division, Oak Ridge National Laboratory, 2) Wadsworth Center,

A chlorambucil-induced t(2;13) translocation causes a series of abnormalities including open eyelids at birth, coat color dilution, and neurological problems.  Mice bearing this translocation die before 3 months of age.  Our recent results have shown that this death is most likely due to the rapid development of glomerulonephritis. At 1-6 months, mutant mice show high blood urea nitrogen levels and develop severe proteinuria. Immunofluorescence of mutant kidneys showed granular staining of IgG, IgM and C3 in glomerular loops and mesangial cells. Additionally, double-stranded DNA auto-antibodies have been found in sera from mutant mice. The above data indicate the presence of an autoimmune disorder in these mice that resembles systemic lupus erythematosus (SLE).

Using fluorescent in-situ hybridization (FISH), we have mapped the position of this mutation/translocation more precisely. A contig spanning the breakpoint region on chromosome 13 was assembled with the RPCI-23 BAC library. These BACs were hybridized to mutant metaphase chromosomes.  Two overlapping BACs hybridized to both sides of the breakpoint and reduced the breakpoint critical region to less than 200Kb.

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