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The C-terminal PDZ-binding sequence LKV was substituted with alanines (AAA) in exon 15. Silent restriction enzyme sites were also introduced along with a loxP-flanked neomycin resistance gene upstream of exon 15. The neomycin cassette was deleted via cre-mediated recombination. Quantitative real-time PCR showed normal mRNA levels in midbrain tissue. (J:266803)
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
