About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3766096
Allelic
Composition
Tshrtm1Rmar/Tshrtm1Rmar
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tshrtm1Rmar mutation (1 available); any Tshr mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within 1 week of weaning unless fed a diet supplemented with thyroid powder
• mutants can also survive when the preweaning period is extended to P28

growth/size/body
• developmental and growth delays

homeostasis/metabolism
• untreated mutants and mutants rescued by prolonged weaning and maintained on a normal diet exhibit elevated TSH levels
• hypothyroid with no detectable thyroid hormone, however when mutants are fed normal diet with a high dose thyroid supplement, they become hyperthyroid and TSH levels are suppressed, indicating that the normal feedback mechanism regulating thyroid hormone secretion remains intact
• mutants rescued by prolonged weaning and maintained on a normal diet exhibit low serum T4 levels
• mutants rescued by prolonged weaning and maintained on a normal diet exhibit low serum T3 levels

endocrine/exocrine glands
• thyroids have fewer follicles and more non-follicle associated cells within the gland than in wild-type
• thyroids are about 50% of the size of normal thyroids
• mutants fail to release thyroid hormone into the circulation in response to exogenous TSH
• hypothyroid with no detectable thyroid hormone and elevated TSH, however when placed on thyroid hormone replacement therapy from weaning, mutants become euthyroid
• mutants rescued by prolonged weaning and maintained on a normal diet are severely hypothyroid as indicated by low serum T4 and T3 levels and elevated TSH levels
• thyroid glands produce uniodinated thyroglobulin, but the ability to concentrate and organify iodide can be restored to thyroids when cultured in the presence of the adenylate cyclase agonist forskolin

reproductive system
• mutants that survive due to prolonged preweaning period do not reproduce, however mutants supplemented with thyroid powder are fertile

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital hypothyroidism DOID:0050328 OMIM:PS275200
J:80513


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