Log In|Sign Up
EN
This spontaneous insertion of a single G residue in exon 3 causes a frame shift predicted to encode an abnormal protein sequence after amino acid 140 and a stop codon after residue 178. RT-PCR of retinal RNA shows a 3 fold decrease in expression level and western blotting fails to detect protein product. (J:163743)
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
