Log In|Sign Up
EN
A deletion spanning from the middle of exon 2 to the 3 end of intron 5 with a 3-base insertion. The mutation resulted in the in-frame fusion of the 5 half of exon 2 and the last exon, and the loss of most of the LAMP5 protein other than the signal peptide. (J:291365)
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
