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Exon 1 and approximately 2kb of upstream sequence were replaced by a PGK-neo selection cassette. Western blot analysis of brain and liver protein extracts and immunofluorescence analysis of cerebral sections showed an absence of encoded protein in homozygous mutant mice. Assays using labeled substrate showed significant reductions (50-100 fold) of hydrolytic activity in homozygous mutant mice. (J:70666)
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
