Umod^Urehd1
Chemically induced Allele Detail

Summary

• Symbol: Umod^Urehd1
• Name: uromodulin; urea phenotype
• MGI ID: MGI:3712279
• Synonyms: Umod^C93F
• Gene: Umod Location: Chr7:119061931-119078485 bp, - strand Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
• Alliance: Umod^Urehd1 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to T transversion in exon 3 at nt 470 (NM_009470), leading to an amino acid substitution of cysteine to phenylalanine at position 93 (C93F). Mutant protein levels are elevated in kidneys of heterozygous mice. This protein is predominantly the immature form. (J:201084)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	13 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

Notes

Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: Uromodulin-Associated Kidney Disease in heterozygous and homozygous mice (J:201084)

References

• Original: J:121470 Aigner B, et al., Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models. Am J Physiol Renal Physiol. 2007 May;292(5):F1560-7
• All: 5 reference(s)