Analysis Tools
mortality/aging
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• age of onset E9.5
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liver/biliary system
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Allele Symbol Allele Name Allele ID |
Tsc2tm1Djk targeted mutation 1, David J Kwiatkowski MGI:1857938 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Small size and liver hypoplasia in Tsc2tm1Djk/Tsc2tm1Djk embryos
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• age of onset E9.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Tsc2tm1Djk/Tsc2+ mice develop renal, liver, lung and extremity tumors
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• reported at 15 months of age
• Background Sensitivity: note that the tumor expression pattern is influenced by genetic background; authors note fewer large renal cystadenomas in outbred Black Swiss background and more angiosarcomas in 129S4/SvJae chimeric mice
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• 50% incidence; causes fatal bleeding in 10% of these cases
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• 32% incidence
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• 100% incidence
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• less than 10% incidence
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• less than 10% incidence
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• 100% incidence
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• less than 10% incidence
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• 50% incidence; causes fatal bleeding in 10% of these cases
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• 32% incidence
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:57631 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• male adolescent mice spend less time exploring the novel object than wild-type mice in the novel object recognition test
• however, male adolescent mice do not exhibit repetitive behaviors, motor defects or anxiety-like behaviors in the open field
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• in the three-chamber social test, male adolescent mice show a preference for interacting with a social target compared with nonsocial target, and the preference index (the ratio of time sniffing mouse versus nonsocial target) is decreased
• treatment with rapamycin rescues social deficits (normalizes sociability and social novelty preferences
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• male adolescent (P30-P35) mice spend less time sniffing the stimulus mouse during a dyadic social interaction with a novel mouse, indicating impaired social interactions
• in the social novelty test, adolescent males spend a similar amount of time sniffing both novel and familiar targets, with decreased preference index (the ratio of time sniffing a stranger mouse versus a familiar mouse), indicating a reduced preference for social novelty
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• basal autophagy is suppressed in the brain
• rapamycin treatment normalizes autophagy
• accumulation of lipid droplets and damaged mitochondria in primary neuronal cultures, indicating impaired autophagy
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• density of dendritic spines in pyramidal neuron basal dendrites of layer V A1/S2 in temporal cortex is increased in adolescent males
• similar numbers of spines are seen at P19-P20 as in wild-type mice but far more spines in P29-P30 mutants, indicating a lack of normal spine pruning, with only 26% of spines being pruned
• mice treated with an intraperitoneal injection of rapamycin show a correction of the pruning defect
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• basal autophagy is suppressed in the brain
• rapamycin treatment normalizes autophagy
• accumulation of lipid droplets and damaged mitochondria in primary neuronal cultures, indicating impaired autophagy
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:217829 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal motor skills, exploratory behavior, anxiety and social approach behavior
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• following contextual conditioning, mice exhibit reduced freezing compared to wild-type mice
• however, treatment with rapamycin re-establishes normal contextual conditioning
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• in a hippocampus-dependent version of the Morris water maze test, spatial learning is impaired compared to in wild-type mice
• however, spatial learning in a hippocampus-independent water maze is normal and treatment with rapamycin re-establishes normal spatial learning
• mice exhibit more across-phase errors compared to in wild-type mice in a hippocampus-dependent win-shift version of the eight-arm radial maze
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| N |
• mice exhibit normal basal synaptic transmission, paired-pulse facilitation and early-phase long term potentiation
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• mice exhibit lowered late-phase threshold for long term potentiation compared to in wild-type mice
• however, treatment with rapamycin re-establishes normal late-phase long term potentiation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:138621 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the three-chamber test, mice show impaired preference for sniffing the social target and for social novelty
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• during dyadic encounters, mice spend less time sniffing stimulus mice than control littermates
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• mice exhibit high levels of p62/ubiquitin-positive aggregates in cortices at P30, indicating loss of autophagy
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• between P21 and P29, basal dendrites from layer V A1/S2 pyramidal neurons exhibit more spines than controls, indicating impaired spine pruning, with only 2% of spines pruned
• treatment with rapamycin does not rescue spine pruning
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• mice exhibit high levels of p62/ubiquitin-positive aggregates in cortices at P30, indicating loss of autophagy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• failure of autophagosome induction in neurons
• rapamycin treatment normalizes autophagosome formation in neurons
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• failure of autophagosome induction in neurons
• rapamycin treatment normalizes autophagosome formation in neurons
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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 04/23/2024 MGI 6.23 |
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