Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ptentm1Engc targeted mutation 1, Charis Eng MGI:5509194 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• macrocephaly secondary to megencephaly regardless of background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• latency to fall on the rotarod test is lower across all days, indicating poor balance
• however, mice show similar motor learning as wild-type mice on the accelerating rotarod test
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• males, but not females, exhibit increases in social motivation, with males showing greater variability in the preference for social novelty part of the three-chamber task, and a greater preference for the social target over non-social target in the amount of time spent in close proximity to the target
• however, mice show normal learning and recognition memory in the three chambered test and in a novel object recognition task, normal exploratory behavior in the open field, indicating no differences in anxiety-like behavior, and no differences in the heat-based tail-flick test indicating normal sensory perception
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• mice exhibit increased proliferation in the cerebral cortex and hippocampus at P40
• hyperproliferation of the polydendrocyte (NG2) population within the cortex
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• males, but not females, are smaller at P40
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• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
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• megalencephaly
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• cerebrum is larger in both males and females
• however, the hippocampus is not enlarged
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• dentate gyrus granule cells exhibit a 10% increase in soma size
• however, cerebellar granule cells exhibit normal soma size and normal number of cell processes
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• pyramidal cells of hippocampus exhibit a 23% increase in soma size
• however, dendrites of CA1 pyrmaidal cell neurons are normal
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• pyramidal cells of the cortex a 26% increase in soma size
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• increase in the number of astrocytes at P40
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• mice exhibit increased GFAP-staining throughout the cortex, indicating astrogliosis
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• increase in the number of oligodendrocytes at P40
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• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
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• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| macrocephaly-autism syndrome | DOID:0060867 |
OMIM:605309 |
J:210487 | |
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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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• increased proteasome activity and protein ubiquitination in brain tissue
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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 11/12/2024 MGI 6.24 |
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