This point mutation of a highly conserved tyrosine residue in thyroid peroxidase is useful for studies related to thyroid hormone and thyroid function. Homozygotes have dysplastic thyroid glands, severe proportional dwarfing, and delayed cochlear development with severe hearing deficit due to a lack of thyroid hormone production.Read More +
Mice homozygous for the teeny mutation are proportional dwarfs, distinctly smaller than their heterozygous siblings. This is evident by one week of age. These mutants are severely hypothyroid with undetectable levels of T4 at 5 to 8 weeks of age. The thyroid glands are dysplastic with poorly developed follicles and hyperproliferation of epithelial cells. Although no defects have been found in the eyes, these mutants have highly elevated ABR thresholds at 4 weeks of age, the earliest age assessed, indicative of severe hearing impairment. The cochlear development is delayed and, although the cochlea resembles a normal cochlea by 1 month of age, the tectorial membrane remains abnormally thickened. Homozygotes fail to breed.
The teeny mutation (Tpotee) was identified in the progeny of an ENU induced C57BL/6J male at The Jackson Laboratory in the year 2000, was maintained coisogenic on C57BL/6J, and in 2012 sperm was cryopresrved from heterozygous males
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Tpo, thyroid peroxidase|
|Strain of Origin||C57BL/6J|
|Molecular Note||A single T to A transversion in exon 11 substitutes an asparagine in place of a highly conserved tyrosine at amino acid position 614.|
When using the C57BL/6J-Tpotee/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #006013 in your Materials and Methods section.