Ontology highlight
ABSTRACT: Objective
Loss of function mutations in the insulin receptor substrate 4 (IRS4) gene cause a rare form of X-linked congenital central hypothyroidism in boys and men. Affected individuals show decreased thyroid-stimulation hormone (TSH) secretion. Members of the IRS family canonically act as scaffold proteins between tyrosine kinase receptors and downstream effectors. How loss of IRS4 affects TSH synthesis or secretion is unresolved. We therefore assessed IRS4's role in the hypothalamic-pituitary-thyroid axis of Irs4 knockout mice.Methods
We generated two global Irs4 knockout mouse lines harboring either two or four base-pair deletions that result in frameshifts and loss of most of the IRS4 protein.Results
Under normal laboratory conditions, Irs4 knockout males did n
SUBMITTER: Brule E
PROVIDER: S-EPMC10895334 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature