Log In|Sign Up
EN
Site directed mutagenesis was used to introduce a glutamic acid to glutamine subsitution at residue 536 (E536Q) of exon 10. This mutation corresponds to E540A, an active-site nucleophile replacement mutation found in human GUS deficiency. (J:81792)
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
