About   Help   FAQ
TpoR479C
Spontaneous Allele Detail
Nomenclature
Symbol: TpoR479C
Name: thyroid peroxidase; R479C
MGI ID: MGI:3665236
Synonyms: dwarf
Gene: Tpo  Location: Chr12:30054659-30132624 bp, - strand  Genetic Position: Chr12, 13.0 cM, cytoband C
Mutation
origin
Strain of Origin:  ICR
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsSequence 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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 8 anatomical structures
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:  31 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/04/2020
MGI 6.15
The Jackson Laboratory