immune system
• recombined B lymphocytes show increased spontaneous DNA damage, chromosomal aberrations including tetraploidy, and Ig class-switch recombination is diminished
|
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen
|
• IgG, IgG1, IgG2b and IgG3 levels are reduced
• IgM levels are normal
|
hematopoietic system
• recombined B lymphocytes show increased spontaneous DNA damage, chromosomal aberrations including tetraploidy, and Ig class-switch recombination is diminished
|
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen
|
• IgG, IgG1, IgG2b and IgG3 levels are reduced
• IgM levels are normal
|
cellular
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Nijmegen breakage syndrome | DOID:7400 |
OMIM:251260 |
J:96102 |