HERC1 Loss of Function Causes a Developmental Disorder with Impaired Hippocampal Function

HERC1 knockout mice show progressive failure to sustain excitatory glutamatergic transmission during repetitive stimulation at mossy fibre–CA3 and Schaffer collateral–CA1 synapses.

• Why it matters: The field lacks definitive in vivo proof that complete HERC1 loss is sufficient for neurodevelopmental abnormalities, despite evidence for loss-of-function in patients.
• What they did: Using a HERC1 knockout mouse model, the study assessed behavioural, histological, molecular, and synaptic outcomes, including whole-cell recordings during repetitive stimulation at hippocampal synapses.
• The result: The shared synaptic functional phenotype in both sexes supports HERC1 as a critical regulator of hippocampal circuit assembly and function, enabling preclinical disease-mechanism and therapeutic testing.

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