Primary Identifier | MGI:3580353 | Allele Type | Chemically induced (ENU) |
Gene | Grm6 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
description | This mutation was briefly named nerg1, negative ERG 1, and renamed to nob2, no b wave 2. Due to a conflicting name with another mutation, this allele was renamed to nob4, no b wave 4. Electroretinograms (ERGs) of 12 week old mice lack the rod b-wave and scotopic threshold response (STR), whereas the cone electroretinogram is of large amplitude. |
molecularNote | This phenotypic mutation was identified in an ENU mutagenesis screen at the Center for Functional Genomics (CFG), Northwestern University. A T-to-C transition mutation (nt 709) at codon 185 is predicted to result in a serine to proline substitution that is likely to disrupt the secondary structure of the encoded protein. mRNA expression levels in mutant retina was shown to be approximately 60% of that in control retinas. Immunohistochemistry experiments on mutant retinas failed to detect Grm6 protein that was evident on control retinas. |