Log In|Sign Up
EN
A C to T transition is located in exon 36 resulting in a premature stop codon (Q1033X). Semiquantitative PCR analysis indicates a decrease in mRNA levels. Western blot and immunohistochemical analysis failed to detect protein in homozygotes. (J:153042)
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
