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A T to G transversion in the coding region of the gene led to a phenylalanine to valine substitution at postion 204 of the protein (p.F204V). The mutant protein was distributed randomly throughout collecting duct cells of the kidney rather than localized to the subapical region of collecting duct cells in the wild-type kidney. (J:105809)
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
