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Umodurehr4
Chemically induced Allele Detail
Nomenclature
Symbol: Umodurehr4
Name: uromodulin; urea phenotype 4
MGI ID: MGI:3712284
Synonyms: HST001, UmodA227T
Gene: Umod  Location: Chr7:119462711-119479282 bp, - strand  Genetic Position: Chr7, 63.88 cM, cytoband F1-F2
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induces a G to A transversion at nucleotide 871 in exon 3 (NM_009470) that results in an amino acid substitution of threonine for alanine at position 227 (A227T). (J:153895)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  1 strain or line available
Notes
Phenotypic Similarity to Human Syndrome: uromodulin-associated kidney disease due to the gain-of-toxic function mutation of uromodulin (J:153895)
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory