Allele/Variant

Umodem1Duf

Species
Mus musculus
Symbol
Umodem1Duf
Category
allele
Allele of gene
Umod
Transgenic Constructs
None
Synonyms
  • UmodC147W
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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