Knockout mice with pituitary malformations help identify human cases of hypopituitarism.

ABSTRACT:

Background

Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS).

Methods

The International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of D

SUBMITTER: Martinez-Mayer J 

PROVIDER: S-EPMC11140907 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature