Umod^em1Duf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Umod^em1Duf
• Name: uromodulin; endonuclease-mediated mutation 1, Jeremy S Duffield
• MGI ID: MGI:6162681
• Synonyms: Umod^C147W
• Gene: Umod Location: Chr7:119061931-119078485 bp, - strand Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
• Alliance: Umod^em1Duf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative)
• Mutation: Single point mutation
• Mutation details: 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Umod Mutation: 5 strains or lines available

References

• Original: J:252597 Johnson BG, et al., Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. J Clin Invest. 2017 Nov 1;127(11):3954-3969
• All: 3 reference(s)