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Exon 1, encoding the enzymes signal peptide, was flanked by loxP sites. An FRT-flanked neomycin selection cassette was inserted and removed via Flp-mediated recombination. Exon 1 was deleted via cre-mediated recombination in the germline. Removal of the signal peptide disrupts lysosomal targeting of the enzyme. Mice exhibit reduced ceramidase activity in liver, spleen, thymus, and bone marrow. (J:285931)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
