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. (J:130596)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count