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UmodUrehd1
Chemically induced Allele Detail
Summary
Symbol: UmodUrehd1
Name: uromodulin; urea phenotype
MGI ID: MGI:3712279
Synonyms: UmodC93F
Gene: Umod  Location: Chr7:119061931-119078485 bp, - strand  Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
Alliance: UmodUrehd1 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Dominant negative)
Mutation:    Single point mutation
 
Mutation detailsENU 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  4 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory