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Phenotypes Associated with This Genotype
Genotype
MGI:6157967
Allelic
Composition
Tcf4tm1Hmb/Tcf4+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcf4tm1Hmb mutation (0 available); any Tcf4 mutation (16 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

behavior/neurological
• 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
• 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
• 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 a reduced startle to a 74 dB stimulus at both 12 and 19 weeks of 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
• 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 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
• percentage prepulse inhibition is decreased in 19 week old mice but not 12-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