Phenotypes Associated with This Genotype

Genotype
MGI:6157970

• Allelic Composition: Tcf4^em2Bdph/?
• Genetic Background: involves: C57BL/6 * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

microcephaly ( J:254983 )

nervous system

abnormal brain morphology ( J:254983 )

decreased brain weight ( J:254983 )

enhanced long-term potentiation ( J:254983 )

• 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

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