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Phenotypes Associated with This Genotype
Genotype
MGI:6157969
Allelic
Composition
Tcf4em1Bdph/?
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcf4em1Bdph mutation (1 available); any Tcf4 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

behavior/neurological
• 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
• however, during the reversal phase of the hidden platform test, mice perform similar to controls
• 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
• mice exhibit decreases in the startle amplitude across a range of sound levels at 7-11 weeks of age, but only mild deficits to the acoustic startle stimulus alone by 16 weeks of age, indicating a dampened response with age
• 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

nervous system
• reduction in brain volume
• CA1 pyramidal neurons produce fewer action potentials across a series of depolarizing current steps, indicating reduced firing rates
• action potentials in CA1 pyramidal neurons are initiated at a more depolarized membrane potential relative to controls
• CA1 pyramidal neurons have s slower rate of action potential rise and diminished action potential amplitude
• however, passive membrane properties of CA1 pyramidal neurons are unaffected
• NMDA/AMPA current ratio is enhanced and because AMPA receptor-mediated synaptic transmission appears intact, this suggests that NMDAR-mediated currents are selectively enhanced
• mice exhibit an increase in the decay time of the NMDAR-mediated component of the EPSC
• sensitivity of NMDAR-mediated currents in CA1 pyramidal cells to the NR2B-selective antagonist ifenprodil is increased
• mice exhibit enhanced hippocampal 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
• percentage prepulse inhibition is enhanced in 7-11 week old mice but not 16-week old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Pitt-Hopkins syndrome DOID:0060488 OMIM:610954
J:254983


Contributing Projects:
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
06/04/2019
MGI 6.14
The Jackson Laboratory