Umod^tm1.1Odev
Targeted Allele Detail

Summary

• Symbol: Umod^tm1.1Odev
• Name: uromodulin; targeted mutation 1.1, Oliver Devuyst
• MGI ID: MGI:7563973
• Synonyms: Umod^C171Y
• Gene: Umod Location: Chr7:119061931-119078485 bp, - strand Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
• Alliance: Umod^tm1.1Odev page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342964
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to A change at position 512 (c.G512A) resulting in a cysteine to tyrosine substitution at amino acid 171 (p.C171Y) was introduced in the cysteine-rich domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the C170Y mutation identified in individuals with late-onset autosomal dominant tubulointerstitial kidney disease. (J:342964)

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:342964 Schiano G, et al., Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease. EMBO Mol Med. 2023 Oct 26;:e18242
• All: 1 reference(s)