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Exon 16 was replaced with a modified exon 16 in which nucleotide substitutions result in the amino acid substitution of alanine for leucine at position 502 (L502A) in the conserved carboxy-terminal (CCT) domain. Flp-mediated recombination removed an FRT-flanked puromycin cassette inserted in intron 15. This mutation suppresses protein phosphorylation by WNK isoforms and results in markedly reduced phosphorylation and expression of sodium ion co-transporters NCC and NKCC2 in the kidney. (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
