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CRISPR/Cas9 technology generated an A to C change at position 220 resulting in a glutamine to lysine substitution at amino acid 140 (Q140K). This corresponds to the gout and hyperuricemia associated Q141K variant (SNP rs2231142) in humans. Western blot analysis of whole kidney lysate and jejunum homogenate shows reduced total abundance of the mutant protein in homozygous males, with a 44% decrease in kidney and 78% decrease in jejunum. (J:292268)
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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References Literature
Title
PMID
Journal
Year
IF
