Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 2005

Dryja Thaddeus P, McGee Terri L, Berson Eliot L, Fishman Gerald A, Sandberg Michael A, Alexander Kenneth R, Derlacki Deborah J, Rajagopalan Aruna S

Abstract excerpt

We report three unrelated patients with mutations in the GRM6 gene that normally encodes the glutamate receptor mGluR6. This neurotransmitter receptor has been shown previously to be present only in the synapses of the ON bipolar cell dendrites, and it mediates synaptic transmission from rod and cone photoreceptors to this type of second-order neuron. Despite the synaptic defect, best visual acuities were normal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Primers
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Night Blindness

Share to Pedigree

Share to Receptors, Metabotropic Glutamate

Share to Retinal Cone Photoreceptor Cells

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 15781871
DOI: 10.1073/pnas.0501233102
PMCID: PMC555731

Genes

GRM6
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.PMID 15781871Read ↗

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.Semantic proximity Read ↗

Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.Semantic proximity Read ↗

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.Semantic proximity Read ↗

Reduced expression of the nob8 gene does not normalize the distribution or function of mGluR6 in the mouse retina.Semantic proximity Read ↗

Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.Semantic proximity Read ↗

Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness.Semantic proximity Read ↗

Photopic electroretinograms of mGluR6-deficient mice.Semantic proximity Read ↗

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.Semantic proximity Read ↗

mGluR6 coordinates cone terminal targeting and synaptic layer assembly during human retinal developmentSemantic proximity Read ↗

The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells.Semantic proximity Read ↗

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.Semantic proximity Read ↗

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night BlindnessSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.