Analysis Tools|
Allele Symbol Allele Name Allele ID |
C1qatm1Mjw targeted mutation 1, Mark J Walport MGI:2158701 |
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| Summary |
12 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• Background Sensitivity: mutants on a 129P2/Ola and 129S/SvEv background do not develop glomerulonephritis or autoantibodies as observed in mutants on a 129P2/Ola, 129S/SvEv, and C57BL/6 background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 15% die at 4 - 6 months of age
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• mutants develop high titers of anti-nuclear antibodies
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• Background Sensitivity: severe proliferative crescentic glomerulonephritis evident in 27% mice with electron-dense immune deposits localized in the subendothelial and subepithelial areas
• Background Sensitivity: striking feature is presence of multiple apoptotic bodies in diseased glomeruli
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• animals challenged with virulent pneumococci develop bacteremia and pneumonia after passive immunization with human IgG1 or human IgG2 unlike wild-type mice that are protected after immunization
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• among mutants without glomerulonephritis, significantly greater numbers of glomerular apoptotic bodies are seen than in controls
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• Background Sensitivity: severe proliferative crescentic glomerulonephritis evident in 27% mice with electron-dense immune deposits localized in the subendothelial and subepithelial areas
• Background Sensitivity: striking feature is presence of multiple apoptotic bodies in diseased glomeruli
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• Background Sensitivity: proliferation of cells in Bowman's space forming glomerular crescents
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• among mutants without glomerulonephritis, significantly greater numbers of glomerular apoptotic bodies are seen than in controls
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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:47315 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 9 of 10 mice exhibit stimuli evoked epileptiform activity, including all-or-none polyphasic events of variable form and latency lasting 150-400 ms that are associated with bursts of action potentials, unlike similarly treated wild-type mice
• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices
• epileptiform activity is widespread in the cortex
• however, epileptiform activity is blocked by stimuli 2 or more times threshold
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• mice exhibit spontaneous atypical absence seizures consisting of behavioral arrest with bihemispheric irregular electroencephalogram spike and slow wave activity lasting from 5 to 60 s unlike wild-type mice
• however, treatment with ethosuximide shortens seizure duration
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• layer V pyramidal neurons exhibit a greater number of presynaptic excitatory synapses in different layers of the cortex compared with wild-type mice without increased strength of connectivity
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• axonal bouton density is increased in pyramidal neurons compared to in wild-type cells
• the ratio of small to big boutons is increased compared to in wild-type mice
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• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic excitatory postsynaptic currents (EPSCs) unlike in wild-type cells
• EPSC maps are larger with a larger hot spot ratio than in wild-type mice
• however, EPSC amplitude is normal
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• in the presence of tetrodotoxin, the frequency of spontaneous EPSCs in layer V pyramidal cells is higher than in wild-type mice
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• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic inhibitory postsynaptic currents (IPSCs) unlike in wild-type cells
• however, spontaneous IPSCs and miniature IPSCs frequencies are normal
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• in the presence of tetrodotoxin, the frequency of miniature excitatory postsynaptic currents in layer V pyramidal cells is higher than in wild-type mice
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• 9 of 10 mice exhibit stimuli evoked epileptiform activity, including all-or-none polyphasic events of variable form and latency lasting 150-400 ms that are associated with bursts of action potentials, unlike similarly treated wild-type mice
• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices
• epileptiform activity is widespread in the cortex
• however, epileptiform activity is blocked by stimuli 2 or more times threshold
|
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• mice exhibit spontaneous atypical absence seizures consisting of behavioral arrest with bihemispheric irregular electroencephalogram spike and slow wave activity lasting from 5 to 60 s unlike wild-type mice
• however, treatment with ethosuximide shortens seizure duration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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