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A mutation occurred in exon 4 converting the C at coding nucleotide 767 into a T (c.767C>T), resulting in a serine to leucine substitution (p.S256L). Apical accumulation of the protein is lost in the renal collecting ducts of homozygotes. (J:109463)
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
