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A loxP site was inserted upstream of exon 67 and an FRT-flanked PGK-neomycin cassette and second loxP site were inserted downstream of the 3 UTR. In addition, a triple HA epitope-tag was inserted in frame at the C-terminus. The floxed region harbors the nuclear localization signal and the PC2-binding site and is a site for pathogenic mutations in humans. (J:296109)
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
