Primary Identifier | MGI:3712279 | Allele Type | Chemically induced (ENU) |
Attribute String | Dominant negative | Gene | Umod |
Inheritance Mode | Dominant | Strain of Origin | C3HeB/FeJ |
Is Recombinase | false | Is Wild Type | false |
description | Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: Uromodulin-Associated Kidney Disease in heterozygous and homozygous mice (J:201084) |
molecularNote | 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. |