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A genomic fragment of exon 4 (transcript variant 1) was replaced with a neomycin resistance cassette. Exon 4 encodes a portion of the GUK domain common to all three protein isoforms. Western blot and qRT-PCR analysis performed on brain protein lysates and RNA confirmed the loss of protein and mRNA transcript expression in homozygous mutant mice. (J:213553)
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
