Tg(Umod*C217G)1Xrw
Transgene Detail

Summary

• Symbol: Tg(Umod*C217G)1Xrw
• Name: transgene insertion 1, Xue-Ru Wu
• MGI ID: MGI:6758566
• Synonyms: THP-C217G
• Transgene: Tg(Umod*C217G)1Xrw Location: unknown
• Alliance: Tg(Umod*C217G)1Xrw page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: 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 kidneys 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. (J:252420)

Disease models

Expression

In Structures Affected by this Mutation:

3 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

References

• Original: J:252420 Ma L, et al., Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia. PLoS One. 2017;12(11):e0186769
• All: 1 reference(s)