A Knock-In Mouse Model of the Gcm2 Variant p.Y392S Develops Normal Parathyroid Glands.

ABSTRACT:

Context

The glial cells missing 2 (GCM2) gene functions as a transcription factor that is essential for parathyroid gland development, and variants in this gene have been associated with 2 parathyroid diseases: isolated hypoparathyroidism in patients with homozygous germline inactivating variants and primary hyperparathyroidism in patients with heterozygous germline activating variants. A recurrent germline activating missense variant of GCM2, p.Y394S, has been reported in patients with familial primary hyperparathyroidism.

Objective

To determine whether the GCM2 p.Y394S missense variant causes overactive and enlarged parathyroid glands in a mouse model.

Methods

CRISPR/Cas9 gene editing technology was used to generate a mouse model with the germli

SUBMITTER: Parekh VI 

PROVIDER: S-EPMC10599131 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature