Log In|Sign Up
EN
The construct targeted to the locus contained a ubiquitous CAG promoter, floxed stop cassette and the murine gene. Cre-mediated recombination removed the stop cassette. Enzymatic assay confirmed a greater than 10-fold increase in secretory acid sphingomyelinase activity in cerebrospinal fluid. (J:200864)
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
