An A66G transition represses splicing of intron 1, allowing an additional 92 bp in the coding sequence that leads to a frameshift and a novel hybrid protein containing 3 amino acids of the gammaE-crystallin at the N terminus and 153 additional novel amino acids. The protein is predicted to have two hydrophobic domains and Western blot demonstrated expression in the cataractous lenses. (J:78761)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(102/El x C3H/El)F1
Chemically induced
Single point
Not Specified
1
7
2

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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