GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: Complete congenital stationary night blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.020 Biomarker disease BEFREE The <i>Grm6<sup>nob8</sup></i> mouse extends the <i>Grm6</i> allelic series and will be useful for elucidating the role of mGluR6 in DBC signal transduction and in human disease.<b>NEW & NOTEWORTHY</b> This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a distinct phenotype from that seen in other <i>Grm6</i> mouse models. 28490646 2017
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.020 Biomarker disease BEFREE So far, mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB. 18617546 2009