{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:35:33Z","timestamp":1791228933697,"version":"4.1.0"},"reference-count":30,"publisher":"Maximum Academic Press","license":[{"start":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T00:00:00Z","timestamp":1431302400000},"content-version":"unspecified","delay-in-days":130,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["journals.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Vis Neurosci"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Electroretinogram (ERG) studies identified a new mouse line with a normal a-wave but lacking the b-wave component. The ERG phenotype of this new allele,<jats:italic>nob7<\/jats:italic>, matched closely that of mouse mutants for<jats:italic>Grm6<\/jats:italic>,<jats:italic>Lrit3<\/jats:italic>,<jats:italic>Trpm1<\/jats:italic>, and<jats:italic>Nyx<\/jats:italic>, which encode for proteins expressed in depolarizing bipolar cells (DBCs). To identify the underlying mutation, we first crossed<jats:italic>nob7<\/jats:italic>mice with<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob3<\/jats:italic><\/jats:sup>mutants and measured the ERGs in offspring. All the offspring lacked the b-wave, indicating that<jats:italic>nob7<\/jats:italic>is a new allele for<jats:italic>Grm6<\/jats:italic>:<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob7<\/jats:italic><\/jats:sup>. Sequence analyses of<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob7<\/jats:italic><\/jats:sup>cDNAs identified a 28 base pair insertion between exons 8 and 9, which would result in a frameshift mutation in the open reading frame that encodes the metabotropic glutamate receptor 6 (<jats:italic>Grm6<\/jats:italic>). Sequencing both the cDNA and genomic DNA from exon 8 and intron 8, respectively, from the<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob7<\/jats:italic><\/jats:sup>mouse revealed a G to A transition at the last position in exon 8. This mutation disrupts splicing and the normal exon 8 is extended by 28 base pairs, because splicing occurs 28 base pairs downstream at a cryptic splice donor. Consistent with the impact of the resulting frameshift mutation, there is a loss of mGluR6 protein (encoded by<jats:italic>Grm6<\/jats:italic>) from the dendritic tips of DBCs in the<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob7<\/jats:italic><\/jats:sup>retina. These results indicate that<jats:italic>Grm6<\/jats:italic><jats:sup><jats:italic>nob7<\/jats:italic><\/jats:sup>is a new model of the complete form of congenital stationary night blindness, a human condition that has been linked to mutations of<jats:italic>GRM6<\/jats:italic>.<\/jats:p>","DOI":"10.1017\/s0952523815000012","type":"journal-article","created":{"date-parts":[[2015,7,16]],"date-time":"2015-07-16T07:25:55Z","timestamp":1437031555000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":17,"title":["Identification of a new mutant allele,<i>Grm6<\/i><sup><i>nob7<\/i><\/sup>, for complete congenital stationary night blindness"],"prefix":"10.48130","volume":"32","author":[{"given":"HAOHUA","family":"QIAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RUI","family":"JI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RONALD 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