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A neomycin cassette was used to disrupt the sequence of exon 2, which encodes the active site of the protein. Western analysis confirmed a lack of protein. The presence of enzymatic activity in tissues from homozygous mutant tissue, indicated the presence of another form of the enzyme. (J:72532)
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
