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中文
Exon 16被替换为一个修改过的Exon 16，其中的核苷酸变异导致在保守的CCT域中，第502位的Alanine被Leucine替换为(L502A)。通过Flp介导的重组，去除了插入在Intron 15中的FRT标记的puromycin cassette。这个突变抑制了WNK同源物的蛋白磷酸化，并导致肾中钠离子协同转运蛋白(NCC和NKCC2)的磷酸化和表达显著减少。(来源：J:224087)
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
