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Updated: Jun 25, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

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Published on: May 12, 2015

Early synaptic defects in tulp1-/- mice.

Gregory H Grossman¹, Gayle J T Pauer, Umadevi Narendra

¹Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Investigative Ophthalmology & Visual Science

|February 17, 2009

Summary

This summary is machine-generated.

Tubby-like protein 1 (TULP1) is essential for photoreceptor synapse development. Tulp1 mutations cause abnormal synaptic structure and function, leading to retinal degeneration.

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Area of Science:

Ophthalmology
Neuroscience
Genetics

Background:

Mutations in tubby-like protein 1 (TULP1) cause autosomal recessive retinitis pigmentosa.
TULP1's role in photoreceptor synapse development and function is not fully understood.

Purpose of the Study:

To investigate the role of Tulp1 in the photoreceptor synapse.
To examine presynaptic and postsynaptic architecture and retinal function in tulp1(-/-) mice.

Main Methods:

Immunohistochemistry was used to analyze tulp1(-/-) mice, wild-type littermates, and rd10 mice.
Retinal function was assessed using electroretinography.

Main Results:

Tulp1 localizes to the photoreceptor synapse in wild-type mice.
In tulp1(-/-) mice, photoreceptor synapses exhibit disrupted ribbon proteins (Bassoon, Piccolo), few intact ribbons, and stunted bipolar cell dendrites.
Electroretinography showed altered b-wave intensity-response functions in tulp1(-/-) mice compared to wild-type and rd10 mice.

Conclusions:

Tulp1 is critical for photoreceptor function, survival, and proper photoreceptor synapse development.
Abnormalities in tulp1(-/-) mice suggest a novel phenotype of early-onset photoreceptor degeneration preceded by synaptic defects.
Malformation of the photoreceptor synaptic ribbon is implicated in bipolar cell dendritic dystrophy.