Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ptentm1Engc targeted mutation 1, Charis Eng MGI:5509194 |
||||||||||||||||||||
| Summary |
4 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• macrocephaly secondary to megencephaly regardless of background
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
 |
• 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
|
|
• increase in the number of astrocytes at P40
|
|
• mice exhibit increased GFAP-staining throughout the cortex, indicating astrogliosis
|
|
• increase in the number of oligodendrocytes at P40
|
|
• mice exhibit increased proliferation in the cerebral cortex and hippocampus at P40
• hyperproliferation of the polydendrocyte (NG2) population within the cortex
|
|
• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
|
|
|
• males, but not females, are smaller at P40
|
|
• increase in the number of astrocytes at P40
|
|
• mice exhibit increased GFAP-staining throughout the cortex, indicating astrogliosis
|
|
• increase in the number of oligodendrocytes at P40
|
|
• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
|
|
• megalencephaly
|
|
• cerebrum is larger in both males and females
• however, the hippocampus is not enlarged
|
|
• 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
|
|
• pyramidal cells of hippocampus exhibit a 23% increase in soma size
• however, dendrites of CA1 pyrmaidal cell neurons are normal
|
|
• pyramidal cells of the cortex a 26% increase in soma size
|
|
• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
|
|
• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| macrocephaly-autism syndrome | DOID:0060867 |
OMIM:605309 |
J:210487 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased proteasome activity and protein ubiquitination in brain tissue
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 09/30/2025 MGI 6.24 |
|
|
|
||
