Umod^em1Ymc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Umod^em1Ymc
• Name: uromodulin; endonuclease-mediated mutation 1, Ying Maggie Chen
• MGI ID: MGI:7565848
• Synonyms: Umod^DEL
• Gene: Umod Location: Chr7:119061931-119078485 bp, - strand Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
• Alliance: Umod^em1Ymc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 27-bp deletion, Y178 to R186, in exon 3. This is equivalent to the human p.His177-Arg185 del in-frame deletion, one of the most prevalent mutations in autosomal dominant tubulointerstitial kidney disease due to uromodulin mutations (ADTKD-UMOD). (J:343282)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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: 10 strains or lines available

References

• Original: J:343282 Kim Y, et al., MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice. Nat Commun. 2023 Oct 14;14(1):6493
• All: 1 reference(s)