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

Julian Martinez-MayerMichelle L BrinkmeierSean P O'ConnellArnold UkagwuMarcelo A MartiMirta MirasMaria V ForclazMaria G BenzrihenLeonard Y M CheungSally A CamperBuffy S EllsworthLori T RaetzmanMaria I Pérez-MillánShannon W Davis

Published in: Genome medicine (2024)

The screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.

Keyphrases

endothelial cells
young adults
quality improvement
high throughput
electronic health record
induced pluripotent stem cells
big data
intellectual disability
wild type
pluripotent stem cells