Log In|Sign Up
EN
A 515 bp deletion at the end of exon 3. This results in utilization of a cryptic splice site in exon 3. This alteration in the mRNA is predicted to create a shift in the reading frame and the introduction of a stop codon at the beginning of the fourth exon. (J:50461)
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
