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CRISPR/Cas9 technology generated at T to G point mutation resulting in a cysteine to tryptophan amino acid change at position 147 (C147W). Three additional silent mutations were found. Levels of UMOD in whole-kidney tissue are elevated and accumulate at a smaller, nonglycosylated pre-Golgi apparatus stage while urinary UMOD is reduced, consistent with a dominant negative function of the mutant protein. (J:252597)
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
