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Allele : Tg(Umod*C217G)1Xrw transgene insertion 1, Xue-Ru Wu

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 kidney’s 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.
  • mutations:
  • Insertion
  • synonyms:
  • THP-C217G,
  • THP-C217G
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories