Log In|Sign Up
EN
ENU mutagenesis generated a T to A transversion at the splice donor site of intron 4 of the gene locus. This tranversion causes skipping of exon 4 during transcription leading to an in-frame deletion of 23 amino acids. This mRNA transcript is unstable and no protein is produced as determined by immunoblotting on E12.5 homozygote embryos. (J:139665)
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
