Log In|Sign Up
EN
A spontaneous G-to-A point mutation in intron 4 disrupts the 3' splice acceptor site for exon 5 by changing it from CAG to CAA. Western blot analysis confirmed the expression of three aberrant proteins and the absence of the wild-type protein in the brain. (J:195809)
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
