CBy.RF-Tshr^hyt/J

Stock number: 000805
Product name: hypothyroid
Research areas: Endocrine Deficiency Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Tshr locus characterized by growth retardation, low thyroid hormone levels, elevated thyroid stimulating hormone (TSH), hypoplastic thyroid glands, and stereocilia defects of the cochlear hair cells resulting in deafness.

Detailed description

Mice homozygous for the hypothyroid spontaneous mutation (Tshr^hyt) are characterized by growth retardation, low thyroid hormone levels, elevated thyroid stimulating hormone (TSH) and hypoplastic thyroid glands. Homozygous mice of both sexes are infertile but fertility as well as growth can be restored by treatment with thyroid hormone. The mice do not respond to exogenous TSH. Homozygous mutant mice also have delayed eye-opening and raising of the ear-pinna to 17 and 20 days of age respectively, and display auditory defects characterized by morphologic abnormalities of the stereocilia on both inner and outer hair cell systems. Administration of thyroxin from conception through postnatal day 28 ameliorates the phenotypes of hearing, body weight, and age of eye-opening and pinna-raising to a greater degree than administration only prenatally and a much greater degree than administration only postnatally (Sprenkle et la., 2001).

Allele

Symbol: Tshr^hyt
Name: hypothyroid
MGI accession ID: MGI:1856914
Generation method: Spontaneous
Marker symbol: Tshr
Marker name: thyroid stimulating hormone receptor
Chromosome: 12
Strain of origin: RF/J
Molecular note: The mutation in the hypothyroid mouse is a C-to-T transition at coding nucleotide 1667. This results in a substitution of proline with leucine at position 556 (p.P556L) in transmembrane domain IV of the encoded protein.