Tpo^R479C
Spontaneous Allele Detail

Summary

• Symbol: Tpo^R479C
• Name: thyroid peroxidase; R479C
• MGI ID: MGI:3665236
• Synonyms: dwarf
• Gene: Tpo Location: Chr12:30104658-30182623 bp, - strand Genetic Position: Chr12, 13.0 cM, cytoband C
• Alliance: Tpo^R479C page

Mutation origin

• Strain of Origin: ICR

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Sequence analyses revealed that this allele has a C-to-T nucleotide change in exon 9. This missense mutation leads to an amino acid exchange from arginine to cysteine at residue 479 (p.R479C). A mutant protein is expressed from this allele, but it does not have peroxidase activity. (J:112930)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Tpo Mutation: 52 strains or lines available

References

• Original: J:112930 Takabayashi S, et al., A novel hypothyroid dwarfism due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse. Mol Endocrinol. 2006 Oct;20(10):2584-90
• All: 1 reference(s)