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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
6

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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