Primary Identifier | MGI:6758566 | Allele Type | Transgenic |
Attribute String | Inserted expressed sequence | Gene | Tg(Umod*C217G)1Xrw |
Strain of Origin | FVB/N | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The full-length mouse Umod cDNA with a hemagglutinin (HA) tag between amino acid residues 59 and 60 and a mutated codon in which the first cysteine within the D8C domain is changed to glycine at codon 217 (C217G) is under the control of the mouse Umod promoter. RT-PCR, Western blotting and immunohistochemistry confirmed the expression of the mutant in the kidney and the kidneyâs thick ascending limb specific manner. The mutant protein has a molecular weight of only approximately 65 kD, indicating it lacks any complex-type glycosylation. In addition, the amount of the endogenous approximately 100 kDa protein is reduced about 50%. Immunohistochemistry shows that the protein is primarily cytoplasmic instead of luminal as in wild-type mice. The C217G mutational switch is common in patients with uromodulin-associated kidney diseases. Three founders were generated, with this line being the one with the highest number of transgene copies. |