Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tcf4+ wild type MGI:2432256 |
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| Summary |
10 genotypes
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Data Sources
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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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• mice show reduced freezing in the contextual fear conditioning tests
• mice treated subchronically with suberoylanilide hydroxamic acid show rescue of memory-associated freezing in the contextual and cued tests
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• mice show reduced freezing in the cued fear conditioning test
• mice treated subchronically with suberoylanilide hydroxamic acid show rescue of memory-associated freezing in the contextual and cued tests
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• in the Morris water maze, mice fail to show selectivity for the target quadrant, spending less time there than wild-type mice and crossing the platform zone fewer times
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• mice have a deficit in the 24 hour object location memory indicating impaired spatial memory
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• mice groom themselves more than wild-type mice
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• mice exhibit enhanced startle reflex to unexpected 120 dB sound bursts
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• mice exhibit asymmetry in their motor control and an imbalance that favors their left size
• however, mice show no differences on the rotating rod or in walking across a horizontal ladder
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• mice show weaker hindlimb, but not forelimb, grip strength
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• mice favor their front left paw while ambulating across a catwalk
• dynamic weight bearing analysis indicates that mice place more weight on their front left paw than their right paw
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• mice show increased activity in the open field and in the elevated plus maze, where mice show an increase in overall arm entrances
• however, mice do not show an increase in anxiety in the open field or elevated plus maze
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• mice prefer social isolation over interaction with a novel mouse in the three-chamber social test
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• pups have reduced ultrasonic vocalization when removed from the nest, which remains low until the phenotype converges with normal behavior or wild-type controls around P7
• P3 pups have weaker calls
• P3 pups have less frequent ultrasonic distress calls and at lower volumes
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• mice exhibit enhanced Schaffer collateral long-term potentiation when activated with theta burst stimulation
• hippocampal CA1 area treated with the HDAC inhibitor Trichostatin A before theta burst stimulation normalizes the LTP
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• mice have deficits in prepulse inhibition
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:239016 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit an intermediate increased in DN3 cells compared to wild-type mice and homozygotes
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• mice exhibit an intermediate increased in DN3 cells compared to wild-type mice and homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show agenesis of the splenium of the corpus callosum
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• dentate gyrus volume is decreased
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• reduction in hippocampal volume
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• cortical thickness is reduced in all analyzed areas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:265025 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show a similar level of activity at the outset of the task as controls, but the level of activity appears to wane more slowly, indicating a possible deficit in habituation to novel environments
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• mice take a longer time to locate the hidden platform in the Morris water maze task and travel farther during the acquisition phase than controls
• during the reversal phase of the hidden platform test, mice never meet the criterion for learning across the entire regimen, and they travel farther than controls
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• mice spend more time in the center region of the novel open field during the last 20 min of the trial, indicating reduced anxiety
• in the elevated plus maze task, mice spend more time in the open arms and make more entries into the open arm than closed arm, indicating reduced anxiety
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• mice exhibit a reduced startle to a 74 dB stimulus at both 12 and 19 weeks of age
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• mice exhibit increased activity and total distance traveled in the open field task
• however, mice exhibit normal motor coordination in the accelerating rotarod and normal sociability in the three-chamber task
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• NMDA/AMPA current ratio is enhanced and because AMPA receptor-mediated synaptic transmission appears intact, this suggests that NMDAR-mediated currents are selectively enhanced
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• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies
• however, no differences are seen in long term depression (LTD) after 15 min of 1 Hz stimulation, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal
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• percentage prepulse inhibition is decreased in 19 week old mice but not 12-week old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:254983 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduction in brain volume
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• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies
• however, no differences in long term depression (LTD) after 15 min of 1 Hz stimulation are seen, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:254983 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most homozygotes died within two weeks of birth
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• evident after birth
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• 70% reduction in the number of pro-B cells
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• 70% reduction in the number of pro-B cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die within the first 24 hours of birth but no embryonic lethality is observed as previously noted
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• the pontine nuclei is disrupted
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• mice die within the first 24 hours of birth but no embryonic lethality is observed as previously noted
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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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• most homozygotes died within two weeks of birth
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• evident after birth
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• 50% reduction in the number of pro-B cells
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• 50% reduction in the number of pro-B cells
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| N |
• the pontine nucleus develops normally
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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 10/22/2024 MGI 6.24 |
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