Analysis Tools
mortality/aging
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• about 60% die within 24h of birth
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cellular
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• after 5 days in culture 2 fold greater numbers of MEFs accumulate in G2/M compared to wild-type MEFs
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• increased cell death in MEFs following methyl methanesulfonate (MMS) treatment
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• in many organs (heart, lung, stomach, cortex midbrain, kidney, spleen, cerebellum, cortex forebrain, and fetal liver) of embryos
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• in embryos
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• brains show almost a 40-fold increase in apoptosis at E14
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• in embryos
(J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells
(J:206872)
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• in fetal livers
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• in many organs of embryos
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• MEFs double at about half the rate of controls
• growth of MEFs in 5% oxygen yields nearly equivalent proliferation to wild-type MEFs in 20% oxygen
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• deficient in MEFs
• MEFs accumulate BER reaction intermediates
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• significant increase in chromosome fragments, as well as interchromosome and intrachromosome fusions in MEFs
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growth/size/body
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• about 33% smaller at birth
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• survivors remain smaller during the first 3 weeks of life
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hematopoietic system
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• in embryos
(J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells
(J:206872)
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• B cells have shorter CDR3 junctions in the Ig heavy chain compared to wild-type; majority of CDR3 junctions are 31-35 base pairs in length compared to 41-45 base pairs in wild-type mice with many more unidentifiable D regions in the mutant
• the lengths of N/P additions between the rearranged V and D segments are shorter
• however, no differences in length of the Ig light chain junctions or the T receptors and class switch recombination is normal, with no differences in the levels of IgG1, IgG2a, IgG2b or IgG3
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• mice show increased frequency of somatic hypermutation; the frequencies of transversions at GC base pairs are most significantly increased, although increases in mutations at A:T base pairs are also increased
• mice exhibit increased levels of mutation in the AID hotspot motifs
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• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
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• elevation in numbers of follicular T helper cells in the spleen
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• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
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• by 12 months of age, mice show increased levels of IgG localized to the glomeruli
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homeostasis/metabolism
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• deficient in MEFs
• MEFs accumulate BER reaction intermediates
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immune system
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• in embryos
(J:183837)
• increase in levels of apoptosis in the spleen; TUNEL-positive cells mostly overlap with CD4 T helper cells
(J:206872)
|
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• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice
|
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• B cells have shorter CDR3 junctions in the Ig heavy chain compared to wild-type; majority of CDR3 junctions are 31-35 base pairs in length compared to 41-45 base pairs in wild-type mice with many more unidentifiable D regions in the mutant
• the lengths of N/P additions between the rearranged V and D segments are shorter
• however, no differences in length of the Ig light chain junctions or the T receptors and class switch recombination is normal, with no differences in the levels of IgG1, IgG2a, IgG2b or IgG3
|
|
• mice show increased frequency of somatic hypermutation; the frequencies of transversions at GC base pairs are most significantly increased, although increases in mutations at A:T base pairs are also increased
• mice exhibit increased levels of mutation in the AID hotspot motifs
|
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• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
|
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• elevation in numbers of follicular T helper cells in the spleen
|
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• elevation in numbers of germinal cell B cells and follicular T helper cells in the spleen
|
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• by 12 months of age, mice show increased levels of IgG localized to the glomeruli
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• cervical lymphoadenopathy with significant infiltration of T and B lymphocytes
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• infiltration of T and B lymphocytes into cervical lymph nodes
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• mice show increased levels of antinuclear antibodies, leading to glomerulonephritis, dermatitis, and cervical lymphadenopathy
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• progressive increase in levels of antinuclear antibodies in blood sera over time
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dermatitis
(
J:206872
)
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• increase in prevalence of dermatitis
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nervous system
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• brains show almost a 40-fold increase in apoptosis at E14
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renal/urinary system
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• in embryos
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liver/biliary system
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• in fetal livers
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digestive/alimentary system
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• a few mutants exhibit enlarged salivary glands that have infiltrating lymphocytes, which are predominantly T and B cells
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• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice
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endocrine/exocrine glands
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• a few mutants exhibit enlarged salivary glands that have infiltrating lymphocytes, which are predominantly T and B cells
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• infiltration of lymphocytes, predominantly T and B cells, in salivary glands of a few mice
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integument
dermatitis
(
J:206872
)
|
• increase in prevalence of dermatitis
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embryo
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• in many organs (heart, lung, stomach, cortex midbrain, kidney, spleen, cerebellum, cortex forebrain, and fetal liver) of embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:206872 | |
