The mutation is a T-to-A transversion at the second base of exon 6, altering this codon from a tryptophan to an arginine. The mutation also leads to an additional splicing signal, skipping the first 3 bp of exon 6 and deletion of the codon from the encoded mRNA. Both types of mRNA are present in homozygous mutant lenses. The fourth Greek key motif of the protein is predicted not to form as a result of these mutations. (J:58912)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3HeB/FeJ
Chemically induced
Single point
Semidominant
1
5
1

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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