Log In|Sign Up
EN
ENU mutagenesis induced an A to T transversion in the intron 6 splice acceptor. This mutation leads to a frame shift and an in-frame 32 amino acid insertion before generating a premature termination codon. The absence of protein expression was confirmed by western blot analysis on retinal extracts. (J:82238)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
